Journal of Movement DisordersJournal of Movement Disordershttp://e-jmd.org
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Feed provided by JMD Click to visit.engTau Positron Emission Tomography Imaging in Degenerative Parkinsonismshttp://e-jmd.org/journal/view.php?number=208
In recent years, several radiotracers that selectively bind to pathological tau proteins have been developed. Evidence is emerging that binding patterns of <i>in vivo</i> tau positron emission tomography (PET) studies in Alzheimer’s disease (AD) patients closely resemble the distribution patterns of known neurofibrillary tangle pathology, with the extent of tracer binding reflecting the clinical and pathological progression of AD. In Lewy body diseases (LBD), tau PET imaging has clearly revealed cortical tau burden with a distribution pattern distinct from AD and increased cortical binding within the LBD spectrum. In progressive supranuclear palsy, the globus pallidus and midbrain have shown increased binding most prominently. Tau PET patterns in patients with corticobasal syndrome are characterized by asymmetrical uptake in the motor cortex and underlying white matter, as well as in the basal ganglia. Even in the patients with multiple system atrophy, which is basically a synucleinopathy, <sup>18</sup>F-flortaucipir, a widely used tau PET tracer, also binds to the atrophic posterior putamen, possibly due to off-target binding. These distinct patterns of tau-selective radiotracer binding in the various degenerative parkinsonisms suggest its utility as a potential imaging biomarker for the differential diagnosis of parkinsonisms.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-1.jpg' border=0></p>Review ArticleTue, 23 Jan 2018 00:00:00 +0100http://e-jmd.org/journal/view.php?number=208Alteration in the Local and Global Functional Connectivity of Resting State Networks in Parkinsonhttp://e-jmd.org/journal/view.php?number=209
Objective
Parkinson’s disease (PD) is a neurodegenerative disorder that mainly leads to the impairment of patients’ motor function, as well as of cognition, as it progresses. This study tried to investigate the impact of PD on the resting state functional connectivity of the default mode network (DMN), as well as of the entire brain.
Methods
Sixty patients with PD were included and compared to 60 matched normal control (NC) subjects. For the local connectivity analysis, the resting state fMRI data were analyzed by seed-based correlation analyses, and then a novel persistent homology analysis was implemented to examine the connectivity from a global perspective.
Results
The functional connectivity of the DMN was decreased in the PD group compared to the NC, with a stronger difference in the medial prefrontal cortex. Moreover, the results of the persistent homology analysis indicated that the PD group had a more locally connected and less globally connected network compared to the NC.
Conclusion
Our findings suggest that the DMN is altered in PD, and persistent homology analysis, as a useful measure of the topological characteristics of the networks from a broader perspective, was able to identify changes in the large-scale functional organization of the patients’ brain.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-13.jpg' border=0></p>Original ArticleTue, 23 Jan 2018 00:00:00 +0100http://e-jmd.org/journal/view.php?number=209Validity and Reliability Study of the Korean Tinetti Mobility Test for Parkinsonhttp://e-jmd.org/journal/view.php?number=210
Objective
Postural instability and gait disturbance are the cardinal symptoms associated with falling among patients with Parkinson’s disease (PD). The Tinetti mobility test (TMT) is a well-established measurement tool used to predict falls among elderly people. However, the TMT has not been established or widely used among PD patients in Korea. The purpose of this study was to evaluate the reliability and validity of the Korean version of the TMT for PD patients.
Methods
Twenty-four patients diagnosed with PD were enrolled in this study. For the interrater reliability test, thirteen clinicians scored the TMT after watching a video clip. We also used the test-retest method to determine intrarater reliability. For concurrent validation, the unified Parkinson’s disease rating scale, Hoehn and Yahr staging, Berg Balance Scale, Timed-Up and Go test, 10-m walk test, and gait analysis by three-dimensional motion capture were also used. We analyzed receiver operating characteristic curve to predict falling.
Results
The interrater reliability and intrarater reliability of the Korean Tinetti balance scale were 0.97 and 0.98, respectively. The interrater reliability and intra-rater reliability of the Korean Tinetti gait scale were 0.94 and 0.96, respectively. The Korean TMT scores were significantly correlated with the other clinical scales and three-dimensional motion capture. The cutoff values for predicting falling were 14 points (balance subscale) and 10 points (gait subscale).
Conclusion
We found that the Korean version of the TMT showed excellent validity and reliability for gait and balance and had high sensitivity and specificity for predicting falls among patients with PD.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-24.jpg' border=0></p>Original ArticleTue, 23 Jan 2018 00:00:00 +0100http://e-jmd.org/journal/view.php?number=210Validation of the Conversion between the Mini-Mental State Examination and Montreal Cognitive ...http://e-jmd.org/journal/view.php?number=205
Objective
Two conversion tables between the Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) have recently been established for Parkinson’s disease (PD). This study aimed to validate them in Korean patients with PD and to evaluate whether they could be influenced by educational level.
Methods
A total of 391 patients with PD who undertook both the Korean MMSE and the Korean MoCA during the same session were retrospectively assessed. The mean, median, and root mean squared error (RMSE) of the difference between the true and converted MMSE scores and the intraclass correlation coefficient (ICC) were calculated according to educational level (6 or fewer years, 7?12 years, or 13 or more years).
Results
Both conversions had a median value of 0, with a small mean and RMSE of differences, and a high correlation between the true and converted MMSE scores. In the classification according to educational level, all groups had roughly similar values of the median, mean, RMSE, and ICC both within and between the conversions.
Conclusion
Our findings suggest that both MMSE-MoCA conversion tables are useful instruments for transforming MoCA scores into converted MMSE scores in Korean patients with PD, regardless of educational level. These will greatly enhance the utility of the existing cognitive data from the Korean PD population in clinical and research settings.Original ArticleThu, 11 Jan 2018 00:00:00 +0100http://e-jmd.org/journal/view.php?number=205Quantitative Assessment of Hand Dysfunction in Patients with Early Parkinsonhttp://e-jmd.org/journal/view.php?number=206
Objective
Motor impairments related to hand function are common symptoms in patients with movement disorders, such as Parkinson’s disease (PD) and focal hand dystonia (FHD). However, hand dysfunction has not been quantitatively assessed as a clinical tool for screening patient groups from healthy controls (HCs). The aim of our study was 1) to quantitatively assess hand dysfunction in patients with PD and FHD and its usefulness as a screening tool 2) to grade disease severity in PD and FHD based on hand dysfunction.
Methods
The current case-control study included HCs (<i>n</i> = 50) and patients with known history of PD (<i>n</i> = 25) or FHD (<i>n</i> = 16). Hand function was assessed by a precision grip task while participants lifted objects of 1.3 N and 1.7 N under dry skin conditions, followed by very wet skin conditions (VWSCs). Receiver operating characteristic and summative scoring analyses were performed.
Results
In PD, the combination of loading phase duration and lifting phase duration at quantitative cutoffs of 0.36 and 0.74 seconds identified 21/25 patients as diseased and 49/50 subjects as HCs with 1.7 N under VWSCs. In PD, 5/21 was graded as “mild” and 16/21 as “moderate cases.” In FHD, slip force at a cutoff of 1.2 N identified 13/16 patients as diseased and 41/50 subjects as HC with 1.7 N under VWSCs, but disease severity could not be graded.
Conclusion
Our results demonstrate the use of precision grip task as an important clinical tool in assessment of hand dysfunction in movement disorder patients. Use of quantitative cutoffs may improve diagnostic accuracy and serve as a valuable adjunct to existing clinical assessment methods.Original ArticleThu, 11 Jan 2018 00:00:00 +0100http://e-jmd.org/journal/view.php?number=206PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorderhttp://e-jmd.org/journal/view.php?number=207
Mutations in presenilin 1 (<i>PSEN1</i>) are the most common cause of autosomal dominant Alzheimer’s disease. Here, we report a Canadian-Vietnamese family carrying a <i>PSEN1</i> p.Met233Val mutation with an exceptionally early and severe presentation that includes a wide range of atypical symptoms, including prominent ataxia, Parkinsonism, spasticity, dystonia, action tremor, myoclonus, bulbar symptoms, seizures, hallucinations and behavioral changes. Whole-exome sequencing (WES) was performed on the affected proband after many assessments over several years proved diagnostically inconclusive. The results were analyzed using the AnnEx “Annotated Exomes” browser (http://annex.can.ubc.ca), a web-based platform that facilitates WES variant annotation and interpretation. High-throughput sequencing can be especially informative for complex neurological disorders, and WES warrants consideration as a first-line clinical test. Data analyses facilitated by web-based bioinformatics tools have great potential for novel insight, although confirmatory, diagnostically accredited Sanger sequencing is recommended prior to reporting.Case ReportThu, 11 Jan 2018 00:00:00 +0100http://e-jmd.org/journal/view.php?number=207Myotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesiahttp://e-jmd.org/journal/view.php?number=211
Tue, 23 Jan 2018 00:00:00 +0100http://e-jmd.org/journal/view.php?number=211Functional Neuroanatomy for Posture and Gait Controlhttp://e-jmd.org/journal/view.php?number=177
Here we argue functional neuroanatomy for posture- gait control. Multi-sensory information such as somatosensory, visual and vestibular sensation act on various areas of the brain so that adaptable posture- gait control can be achieved. Automatic process of gait, which is steady-state stepping movements associating with postural reflexes including headeye coordination accompanied by appropriate alignment of body segments and optimal level of postural muscle tone, is mediated by the descending pathways from the brainstem to the spinal cord. Particularly, reticulospinal pathways arising from the lateral part of the mesopontine tegmentum and spinal locomotor network contribute to this process. On the other hand, walking in unfamiliar circumstance requires cognitive process of postural control, which depends on knowledges of self-body, such as body schema and body motion in space. The cognitive information is produced at the temporoparietal association cortex, and is fundamental to sustention of vertical posture and construction of motor programs. The programs in the motor cortical areas run to execute anticipatory postural adjustment that is optimal for achievement of goal-directed movements. The basal ganglia and cerebellum may affect both the automatic and cognitive processes of posturegait control through reciprocal connections with the brainstem and cerebral cortex, respectively. Consequently, impairments in cognitive function by damages in the cerebral cortex, basal ganglia and cerebellum may disturb posture-gait control, resulting in falling.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-1.jpg' border=0></p>Review ArticleWed, 18 Jan 2017 00:00:00 +0100http://e-jmd.org/journal/view.php?number=177MicroRNA Biomarkers in Neurodegenerative Diseases and Emerging NanoSensors Technologyhttp://e-jmd.org/journal/view.php?number=178
MicroRNAs (miRNAs) are essential small RNA molecules (20?24 nt) that negatively regulate the expression of target genes at the post-transcriptional level. Due to their roles in a variety of biological processes, the aberrant expression profiles of miRNAs have been identified as biomarkers for many diseases, such as cancer, diabetes, cardiovascular disease and neurodegenerative diseases. In order to precisely, rapidly and economically monitor the expression of miRNAs, many cutting-edge nanotechnologies have been developed. One of the nanotechnologies, based on DNA encapsulated silver nanoclusters (DNA/AgNCs), has increasingly been adopted to create nanoscale bio-sensing systems due to its attractive optical properties, such as brightness, tuneable emission wavelengths and photostability. Using the DNA/AgNCs sensor methods, the presence of miRNAs can be detected simply by monitoring the fluorescence alteration of DNA/AgNCs sensors. We introduce these DNA/ AgNCs sensor methods and discuss their possible applications for detecting miRNA biomarkers in neurodegenerative diseases.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-18.jpg' border=0></p>Review ArticleWed, 18 Jan 2017 00:00:01 +0100http://e-jmd.org/journal/view.php?number=178Validation of the Korean Version of the Scale for Outcomes in Parkinsonhttp://e-jmd.org/journal/view.php?number=179
Objective
Autonomic symptoms are commonly observed in patients with Parkinson’s disease (PD) and often limit the activities of daily living. The Scale for Outcomes in Parkinson’s disease-Autonomic (SCOPA-AUT) was developed to evaluate and quantify autonomic symptoms in PD. The goal of this study was to translate the original SCOPA-AUT, which was written in English, into Korean and to evaluate its reliability and validity for Korean PD patients.
Methods
For the translation, the following processes were performed: forward translation, backward translation, expert review, pretest of the pre-final version and development of the final Korean version of SCOPA-AUT (K-SCOPA-AUT). In total, 127 patients with PD from 31 movement disorder clinics of university-affiliated hospitals in Korea were enrolled in this study. All patients were assessed using the K-SCOPA-AUT and other motor, non-motor, and quality of life scores. Test-retest reliability for the K-SCOPA-AUT was assessed over a time interval of 10?14 days.
Results
The internal consistency and reliability of the K-SCOPA-AUT was 0.727 as measured by the mean Cronbach’s α-coefficient. The test-retest correlation reliability was 0.859 by the Guttman split-half coefficient. The total K-SCOPA-AUT score showed a positive correlation with other non-motor symptoms [the Korean version of non-motor symptom scale (K-NMSS)], activities of daily living (Unified Parkinson’s Disease Rating Scale part II) and quality of life [the Korean version of Parkinson’s Disease Quality of Life 39 (K-PDQ39)].
Conclusion
The K-SCOPA-AUT had good reliability and validity for the assessment of autonomic dysfunction in Korean PD patients. Autonomic symptom severities were associated with many other motor and non-motor impairments and influenced quality of life.Original ArticleWed, 18 Jan 2017 00:00:00 +0100http://e-jmd.org/journal/view.php?number=179Clinical Features Indicating Nigrostriatal Dopaminergic Degeneration in Drug-Induced Parkinsonismhttp://e-jmd.org/journal/view.php?number=175
Objective
Patients with drug-induced parkinsonism (DIP) may have nigrostriatal dopaminergic degeneration. We studied the clinical features that may indicate nigrostriatal dopaminergic degeneration in patients with DIP.
Methods
Forty-one DIP patients were classified into normal and abnormal [<sup>18</sup>F] FP-CIT scan groups. Differences in 32 clinical features and drug withdrawal effects were studied.
Results
Twenty-eight patients had normal (Group I) and 13 patients had abnormal (Group II) scans. Eight patients of Group I, but none of Group II, had taken calcium channel blockers (<i>p</i> = 0.040). Three patients of Group I and six of Group II had hyposmia (<i>p</i> = 0.018). After drug withdrawal, Group I showed greater improvement in Unified Parkinson’s Disease Rating Scale total motor scores and subscores for bradykinesia and tremors than Group II. Only hyposmia was an independent factor associated with abnormal scans, but it had suboptimal sensitivity.
Conclusion
None of the clinical features were practical indicators of nigrostriatal dopaminergic degeneration in patients with DIP.Original ArticleTue, 27 Dec 2016 00:00:01 +0100http://e-jmd.org/journal/view.php?number=175Psychodynamic Psychotherapy for Functional (Psychogenic) Movement Disordershttp://e-jmd.org/journal/view.php?number=173
Objective
As the literature for the treatment of functional (psychogenic) movement disorders (FMD) is sparse, we assessed clinical outcomes in patients with FMD who underwent treatment with psychodynamic psychotherapy (PDP).
Methods
A retrospective analysis of the data of patients with FMD who were referred for PDP from 2008?2014 at Emory University Medical Center was performed.
Results
Thirty patients were included, mean age at presentation was 50 years (SD 13.9) and majority were female (27/30). Most common movement disorder was involuntary shaking/jerky movements (50%) and tremor (43%). Mean duration of symptoms was 3.2 years and mean number of PDP visits was 4.9. PDP lead to good outcomes in 10, modest in 8, and poor in 9. Three patients lost to follow up. Mean duration of symptoms between two groups (good vs. poor) was not statistically significant (<i>p</i> = 0.11), mean number of PDP visits showed a trend towards significance (<i>p</i> = 0.053). In all cases of good outcomes precipitants of the movement disorder were identified and a majority (60%) was receptive of the diagnosis and had good insight.
Conclusion
PDP lead to improvement in 60% of the patients which is encouraging as the treatment is challenging. This study supports heterogeneous causes of FMD including varied roles of past/recent events and demonstrates importance of psychological approaches such as PDP. Treatment with PDP should be considered in some patients with FMD but predicting who will respond remains a challenge. Further long term prospective studies with large sample size and placebo control are needed.Original ArticleTue, 27 Dec 2016 00:00:01 +0100http://e-jmd.org/journal/view.php?number=173Exosome-Based Delivery of miR-124 in a Huntingtonhttp://e-jmd.org/journal/view.php?number=180
Objective
Huntington’s disease (HD) is a genetic neurodegenerative disease that is caused by abnormal CAG expansion. Altered microRNA (miRNA) expression also causes abnormal gene regulation in this neurodegenerative disease. The delivery of abnormally downregulated miRNAs might restore normal gene regulation and have a therapeutic effect.
Methods
We developed an exosome-based delivery method to treat this neurodegenerative disease. miR-124, one of the key miRNAs that is repressed in HD, was stably overexpressed in a stable cell line. Exosomes were then harvested from these cells using an optimized protocol. The exosomes (Exo-124) exhibited a high level of miR-124 expression and were taken up by recipient cells.
Results
When Exo-124 was injected into the striatum of R6/2 transgenic HD mice, expression of the target gene, RE1-Silencing Transcription Factor, was reduced. However, Exo-124 treatment did not produce significant behavioral improvement.
Conclusion
This study serves as a proof of concept for exosome-based delivery of miRNA in neurodegenerative diseases.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-45.jpg' border=0></p>Original ArticleWed, 18 Jan 2017 00:00:00 +0100http://e-jmd.org/journal/view.php?number=180Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and
a Systematic ...http://e-jmd.org/journal/view.php?number=174
Familial hyperekplexia, also called startle disease, is a rare neurological disorder characterized by excessive startle responses to noise or touch. It can be associated with serious injury from frequent falls, apnea spells, and aspiration pneumonia. Familial hyperekplexia has a heterogeneous genetic background with several identified causative genes; it demonstrates both dominant and recessive inheritance in the α1 subunit of the glycine receptor (<i>GLRA1</i>), the β subunit of the glycine receptor and the presynaptic sodium and chloride-dependent glycine transporter 2 genes. Clonazepam is an effective medical treatment for hyperekplexia. Here, we report genetically confirmed familial hyperekplexia patients presenting early adult cautious gait. Additionally, we review clinical features, mode of inheritance, ethnicity and the types and locations of mutations of previously reported hyperekplexia cases with a <i>GLRA1</i> gene mutation.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-53.jpg' border=0></p>Case ReportTue, 27 Dec 2016 00:00:01 +0100http://e-jmd.org/journal/view.php?number=174Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroidshttp://e-jmd.org/journal/view.php?number=176
Early motor symptoms of neurodegenerative diseases often appear in combination with psychiatric symptoms, such as depression or personality changes, and are in danger of being misdiagnosed as psychogenic in young patients. We present the case of a 32-year-old woman who presented with rapid-onset depression, followed by a hypokinetic movement disorder and cognitive decline during pregnancy. Genetic testing revealed a mutation in the colony-stimulating factor 1 receptor gene, which led to the diagnosis of hereditary diffuse leukoencephalopathy with spheroids. Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is probably an under-recognized disease. HDLS should be considered in patients with rapidly progressing parkinsonian symptoms and dementia accompanied by white matter lesions.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-59.jpg' border=0></p>Case ReportTue, 27 Dec 2016 00:00:01 +0100http://e-jmd.org/journal/view.php?number=176Camptocormia with Transient Ischemic Attackhttp://e-jmd.org/journal/view.php?number=181
Wed, 18 Jan 2017 00:00:00 +0100http://e-jmd.org/journal/view.php?number=181Multifocal Myoclonus as a Manifestation of Acute Cerebral Infarction Recovered by Carotid ...http://e-jmd.org/journal/view.php?number=182
Wed, 18 Jan 2017 00:00:00 +0100http://e-jmd.org/journal/view.php?number=182Metronidazole-Induced Craniocervical Myoclonus with Reversible Bilateral Dentate Nucleus Lesionshttp://e-jmd.org/journal/view.php?number=183
<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-67.jpg' border=0></p>Wed, 18 Jan 2017 00:00:00 +0100http://e-jmd.org/journal/view.php?number=183Structure, Distribution, and Genetic Profile of http://e-jmd.org/journal/view.php?number=190
Parkinson’s disease (PD), the second most common neurodegenerative disorder after Alzheimer’s disease, is characterized by the loss of nigral dopaminergic neurons. PD leads to a series of clinical symptoms, including motor and non-motor disturbances. α-synuclein, the major component of Lewy bodies, is a hallmark lesion in PD. In this review, we concentrate on presenting the latest research on the structure, distribution, and function of α-synuclein, and its interactions with PD. We also summarize the clinic applications of α-synuclein, which suggest its use as a biomarker, and the latest progress in α-synuclein therapy.Review ArticleMon, 08 May 2017 00:00:00 +0100http://e-jmd.org/journal/view.php?number=190Comparison of Pallidal and Subthalamic Deep Brain Stimulation in Parkinsonhttp://e-jmd.org/journal/view.php?number=191
Objective To compare the therapeutic and adverse effects of globus pallidus interna (GPi) and subthalamic nucleus (STN) deep brain stimulation (DBS) for the treatment of advanced Parkinson’s disease (PD).
Methods We retrospectively analyzed the clinical data of patients with PD who underwent GPi (n = 14) or STN (n = 28) DBS surgery between April 2002 and May 2014. The subjects were matched for age at surgery and disease duration. The Unified Parkinson’s Disease Rating Scale (UPDRS) scores and levodopa equivalent dose (LED) at baseline and 12 months after surgery were used to assess the therapeutic effects of DBS. Adverse effects were also compared between the two groups.
Results At 12 months, the mean changes in the UPDRS total and part I?IV scores did not differ significantly between the two groups. However, the subscores for gait disturbance/postural instability and dyskinesia were significantly more improved after GPi DBS than those after STN DBS (p = 0.024 and 0.016, respectively). The LED was significantly more reduced in patients after STN DBS than that after GPi DBS (p = 0.004). Serious adverse effects did not differ between the two groups (p = 0.697).
Conclusion The patients with PD showed greater improvement in gait disturbance/postural instability and dyskinesia after GPi DBS compared with those after STN DBS, although the patients had a greater reduction in LED after STN DBS. These results may provide useful information for optimal target selection for DBS in PD.Original ArticleMon, 08 May 2017 00:00:00 +0100http://e-jmd.org/journal/view.php?number=191Progressive Supranuclear Gaze Palsy with Predominant Cerebellar Ataxia: A Case Series with Videoshttp://e-jmd.org/journal/view.php?number=188
Progressive supranuclear palsy (PSP) with predominant cerebellar ataxia (PSP-C) is a rare phenotype of PSP. The clinical and radiological features of this disorder remain poorly characterized. Through a retrospective case series, we aim to characterize the clinical and radiological features of PSP-C. Four patients with PSP-C were identified: patients who presented with prominent cerebellar dysfunction that disappeared with the progression of the disease. Supranuclear gaze palsy occurred at a mean of 2.0 ± 2.3 years after the onset of ataxia. Mild cerebellar volume loss and midbrain atrophy were detected on brain imaging, which are supportive of a diagnosis of PSP. Videos are presented illustrating the co-existence of cerebellar signs and supranuclear gaze palsy and the disappearance of cerebellar signs with disease progression. Better recognition and the development of validated diagnostic criteria would aid in the antemortem recognition of this rare condition.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--2-87.jpg' border=0></p>Case ReportTue, 18 Apr 2017 00:00:00 +0100http://e-jmd.org/journal/view.php?number=188Holmeshttp://e-jmd.org/journal/view.php?number=187
A 21-year-old male was admitted with severe right arm and hand tremors after a thalamic hemorrhage caused by a traffic accident. He was also suffering from agonizing pain in his right shoulder that manifested after the tremor. Neurologic examination revealed a disabling, severe, and irregular kinetic and postural tremor in the right arm during target-directed movements. There was also an irregular ipsilateral rest tremor and dystonic movements in the distal part of the right arm. The amplitude was moderate at rest and extremely high during kinetic and intentional movements. The patient underwent left globus pallidum internus and ventral intermediate thalamic nucleus deep brain stimulation. The patient improved by more than 80% as rated by the Fahn-Tolosa-Marin Tremor Rating Scale and Visual Analog Scale six months after surgery.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--2-92.jpg' border=0></p>Case ReportTue, 18 Apr 2017 00:00:01 +0100http://e-jmd.org/journal/view.php?number=187Paroxysmal Kinesigenic Dyskinesia as the Presenting and Only Manifestation of Multiple ...http://e-jmd.org/journal/view.php?number=184
Other than tremor, movement disorders are uncommon in multiple sclerosis. Among these uncommon clinical manifestations, paroxysmal kinesigenic dyskinesia is the most frequently reported. It is characterized by episodic attacks of involuntary movements that are induced by repetitive or sudden movements, startling noise or hyperventilation. The diagnosis is essentially clinical and based on a good observation of the attacks. It is very easy to misdiagnose it. We describe the case of a young female patient who presented paroxysmal kinesigenic dyskinesia as the first and only clinical manifestation of multiple sclerosis, with no recurrence of attacks nor any other neurologic symptom after eighteen months of follow-up.Case ReportFri, 24 Mar 2017 00:00:01 +0100http://e-jmd.org/journal/view.php?number=184Progressive Encephalomyelitis with Rigidity and Myoclonus in an Intellectually Disabled Patient ...http://e-jmd.org/journal/view.php?number=186
We present a case of 32-year-old male with profound mental retardation and autism spectrum disorder who had presented with seizures, rigidity and elevated creatine kinase and was initially diagnosed as neuroleptic malignant syndrome (NMS). The patient subsequently had a complicated clinical course, developing refractory status epilepticus, which lead to the eventual diagnosis of progressive encephalomyelitis with rigidity and myoclonus (PERM). We discuss the clinical similarities and differences between NMS and PERM, and highlight the need to consider alternative diagnoses when the clinical picture of NMS is atypical, particularly in this patient group where the history and clinical examination may be challenging.Case ReportFri, 24 Mar 2017 00:00:01 +0100http://e-jmd.org/journal/view.php?number=186Beyond the Classic Segawa Disease, GCH1-Associated Neurodegenerative Parkinsonism: Practical ...http://e-jmd.org/journal/view.php?number=189
<BR><p align='center'><img src='/upload/thumbnails/jmd-main--2-102.jpg' border=0></p>Tue, 18 Apr 2017 00:00:01 +0100http://e-jmd.org/journal/view.php?number=189Isolated Neurological Manifestation in Silent Celiac Diseasehttp://e-jmd.org/journal/view.php?number=185
Fri, 24 Mar 2017 00:00:01 +0100http://e-jmd.org/journal/view.php?number=185Patients and Their Caregivershttp://e-jmd.org/journal/view.php?number=201
Objective
Many patients with Parkinson’s disease (PD) suffer from motor and non-motor symptoms. According to these variable symptoms of PD, patients or caregivers have a poorer quality of life than patients with other neurodegenerative diseases. Since the difficulties are varied for all patients, prioritizing their difficulties differs among all cases. The goal of this study was to investigate the burdens of PD among the caregivers as well as patients and to identify areas requiring aid from the government.
Methods
We surveyed the awareness and perceptions of PD in patients and caregivers of PD by a face-to-face questionnaire. The questionnaire was divided into three sections: symptoms of PD (part A), desire for policies (part B), and difficulties faced by their caregivers (part C). Part A comprised 8 questions, Part B had 2 questions, and Part C had 3 questions.
Results
In total, 853 subjects (702 patients and 151 caregivers) were enrolled in this study. The major difficulties experienced by PD patients were physical (67%), psychiatric (60%) and socio-economic (52%). Assessing the physical difficulties, more than half the patients experienced severe difficulties (29% very severe, 39% severe). Psychiatric difficulties were assessed as severe (35%) and very severe (21%) among the patients. Severe difficulties were also experienced socio-economically, at 52% in patients and 49% in caregivers, especially among patients in their fifties (58%) and those with their spouse (65%) as caregivers. The topmost need was the introduction of new technology for treatment of PD (62%), followed by relief of costs for treatment (38%) and a family support system (31%). The majority (91%) of the patients were diagnosed with PD within two years after onset of symptoms.
Conclusion
We know that the difficulties of PD and the needs for government assistance are different between patients and caregivers. These results emphasize that perceiving the difficulties and needs of patients and caregivers early can help to prevent and ameliorate the burden of disease.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--3-109.jpg' border=0></p>Original ArticleFri, 22 Sep 2017 00:00:00 +0100http://e-jmd.org/journal/view.php?number=201Genetic Screening for Spinocerebellar Ataxia Genes in a Japanese Single-Hospital Cohorthttp://e-jmd.org/journal/view.php?number=196
Objective
Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and sporadic late cortical cerebellar atrophy. Recently, an autosomal-dominant spinocerebellar ataxia (SCA) mutation was identified in a cohort of patients with non-MSA-C sporadic cerebellar ataxia. The aim of this study is to genetically screen genes involved in SCA in a Japanese single-hospital cohort.
Methods
Over an 8-year period, 140 patients with cerebellar ataxia were observed. There were 109 patients with sporadic cerebellar ataxia (no family history for at least four generations, 73 patients with MSA-C, and 36 patients with non-MSA-C sporadic cerebellar ataxia) and 31 patients with familial cerebellar ataxia. We performed gene analysis comprising SCA1, 2, 3, 6, 7, 8, 12, 17, 31, and dentatorubro-pallidoluysian atrophy (DRPLA) in 28 of 31 non-MSA-C sporadic patients who requested the test. Familial patients served as a control.
Results
Gene abnormalities were found in 57% of non-MSA-C sporadic cerebellar ataxia cases. Among patients with sporadic cerebellar ataxia, abnormalities in SCA6 were the most common (36%), followed by abnormalities in SCA1 (7.1%), SCA2 (3.6%), SCA3 (3.6%), SCA8 (3.6%), and DRPLA (3.6%). In contrast, gene abnormalities were found in 75% of familial cerebellar ataxia cases, with abnormalities in SCA6 being the most common (29%). For sporadic versus familial cases for those with SCA6 abnormalities, the age of onset was older (69 years vs. 59 years, respectively), and CAG repeat length was shorter (23 vs. 25, respectively) in the former than in the latter (not statistically significant).
Conclusion
Autosomal-dominant mutations in SCA genes, particularly in SCA6, are not rare in sporadic cerebellar ataxia. The reason for the frequency of mutations in SCA6 remains unclear; however, the reason may reflect a higher age at onset and variable penetrance of SCA6 mutations.Original ArticleTue, 08 Aug 2017 00:00:01 +0100http://e-jmd.org/journal/view.php?number=196Sleepiness and Depression in Parkinsonhttp://e-jmd.org/journal/view.php?number=202
Objective
We aimed to investigate the effect of ropinirole on excessive daytime sleepiness (EDS) and depression in Parkinson’s disease (PD) with a large population.
Methods
We conducted a cross-sectional observational study at nine hospitals in Korea between April 24, 2013, and April 22, 2015. We analyzed the demographic and clinical features, other medical history, history of antiparkinsonian medication within 6 months, Hoehn and Yahr stage (HY stage), Unified Parkinson’s Disease Rating Scale (UPDRS) part II and III, Epworth Sleepiness Scale (ESS), and 30-item Geriatric Depression Scale (GDS-30).
Results
Four-hundred-thirteen patients with PD (mean age: 65.2 ± 9.0 years; men: 227 patients) were analyzed. Multivariate logistic regression analysis showed that age at examination, UPDRS II, and GDS-30 were independent risk factors for EDS and that sex, UPDRS II, and ESS were independent risk factors for depression.
Conclusion
Our large group study did not find any significant associations of ropinirole with EDS and depression in Korean PD patients.Original ArticleFri, 22 Sep 2017 00:00:00 +0100http://e-jmd.org/journal/view.php?number=202Need for Registration and Reporting of Acupuncture Trials in Parkinsonhttp://e-jmd.org/journal/view.php?number=203
Objective
Many people dealing with Parkinson’s disease (PD) turn to complementary and alternative medicine when searching for a cure or relief from symptoms. Acupuncture is widely used in the Korean PD population to alleviate symptoms and in hopes of curing the illness. However, acupuncture use for PD patients has only recently begun to be studied scientifically and is still considered an unproven treatment for PD. Therefore, there is an urgent need for acupuncture to be studied, validated and used for PD. Thus, our study’s aim is to examine how many acupuncture studies in PD are registered and reported in Korea.
Methods
The registries Clinicaltrials.gov and the Clinical Research Information Service (CRIS) and the search engine PubMed were searched to find relevant human clinical studies involving acupuncture therapy in PD patients. We examined the registration of trials, the posting and publication of results, and whether published articles were registered.
Results
In Clinicaltrials.gov, one completed trial was found with published results. In CRIS, one completed trial was found with published results. A total of 6 publications were found in our study: 2 articles were registered, but only 1 had the registered trial number listed in the article.
Conclusion
Acupuncture is popular among the PD population in Korea regardless of its unproven safety and efficacy. Despite the pressing need for clinical trials, the number of studies listed in the registries was small, and only a few publications were registered. More effort and rigor are needed to validate the efficacy and safety of acupuncture for PD.Original ArticleFri, 22 Sep 2017 00:00:00 +0100http://e-jmd.org/journal/view.php?number=203A Comparative Study of Central Hemodynamics in Parkinsonhttp://e-jmd.org/journal/view.php?number=197
Objective
To explore the central aortic pressure in patients with Parkinson’s disease (PD).
Methods
We investigated central arterial stiffness by measurement of the augmentation index (AIx) in PD patients. Patients were eligible for the study if they were de novo PD and 45 years of age or older. The patients’ demographics, vascular risk factors, and neurologic examinations were collected at baseline. The AIx was measured by applanation tonometry.
Results
A total of 147 subjects (77 in control and 70 in PD groups) were enrolled in the study. While there was no significant difference in peripheral systolic blood pressure (SBP), diastolic blood pressure (DBP), or mean arterial pressure between groups, peripheral pulse pressure (PP) was significantly lower in the PD group than in the control group (<i>p</i> = 0.012). Regarding central pressure, aortic DBP was significantly higher and PP was significantly lower in the PD group (<i>p</i> = 0.001, < 0.0001). Although there was no significant difference in the AIx between the groups, a trend toward a lower AIx was observed in the PD group (31.2% vs. 28.1%, <i>p</i> = 0.074).
Conclusion
This study showed that peripheral and central PP was significantly lower in the PD group than in the control group. Our study suggests that PD patients may have a low risk of a cardiovascular event by reason of a lower PP.Original ArticleThu, 31 Aug 2017 00:00:01 +0100http://e-jmd.org/journal/view.php?number=197Quantitative Gait Analysis in Patients with Huntingtonhttp://e-jmd.org/journal/view.php?number=198
Objective
Gait disturbance is the main factor contributing to a negative impact on quality of life in patients with Huntington’s disease (HD). Understanding gait features in patients with HD is essential for planning a successful gait strategy. The aim of this study was to investigate temporospatial gait parameters in patients with HD compared with healthy controls.
Methods
We investigated 7 patients with HD. Diagnosis was confirmed by genetic analysis, and patients were evaluated with the Unified Huntington’s Disease Rating Scale (UHDRS). Gait features were assessed with a gait analyzer. We compared the results of patients with HD to those of 7 age- and sex-matched normal controls.
Results
Step length and stride length were decreased and base of support was increased in the HD group compared to the control group. In addition, coefficients of variability for step and stride length were increased in the HD group. The HD group showed slower walking velocity, an increased stance/swing phase in the gait cycle and a decreased proportion of single support time compared to the control group. Cadence did not differ significantly between groups. Among the UHDRS subscores, total motor score and total behavior score were positively correlated with step length, and total behavior score was positively correlated with walking velocity in patients with HD.
Conclusion
Increased variability in step and stride length, slower walking velocity, increased stance phase, and decreased swing phase and single support time with preserved cadence suggest that HD gait patterns are slow, ataxic and ineffective. This study suggests that quantitative gait analysis is needed to assess gait problems in HD.Original ArticleThu, 31 Aug 2017 00:00:01 +0100http://e-jmd.org/journal/view.php?number=198http://e-jmd.org/journal/view.php?number=195
We present a case of a 71-year-old male Chamorro patient from Guam who presented with progressive supranuclear palsy (PSP)-Richardson’s syndrome. Considering his strong family history of parkinsonism and a PSP phenotype, he was clinically diagnosed with Guam parkinsonism-dementia complex (PDC). Magnetic resonance imaging (MRI) of the brain revealed prominent midbrain atrophy with preserved pontine volume, forming the ‘hummingbird’ sign, which has not been described before in Guam PDC. Molecular analysis of the chromosome 9 open reading frame 72 gene (<i>C9orf72</i>) showed only 6 GGGGCC repeats. We discuss the clinico-pathological similarities and differences between PSP and Guam PDC, and highlight the topography of neuropathological changes seen in Guam PDC to explain the appearance of the ‘hummingbird’ sign on MRI.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--3-145.jpg' border=0></p>Case ReportTue, 08 Aug 2017 00:00:01 +0100http://e-jmd.org/journal/view.php?number=195Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed ...http://e-jmd.org/journal/view.php?number=204
Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disease caused by mutations of the human gap junction alpha 1 gene, which encodes the protein Connexin-43. Patients with ODDD may present with neurological deficits with a typical pleiotropic combination of characteristic craniofacial, ophthalmological, phalangeal, and dental anomalies. In this report, we describe the first genetically confirmed Korean ODDD patient, who presented with spastic paraparesis. We will also review the neurological aspects of ODDD as reported in the literature.Case ReportFri, 22 Sep 2017 00:00:00 +0100http://e-jmd.org/journal/view.php?number=204A Patient with Recurrent Dyskinesia and Hyperpyrexia Syndromehttp://e-jmd.org/journal/view.php?number=192
Dyskinesia hyperpyrexia syndrome is a rare medical emergency in Parkinson’s disease. It is characterized by continuous dyskinesia associated with hyperthermia, rhabdomyolysis, and alteration of the mental state. We present the case of a 74-year-old woman who presented with recurrent dyskinesia hyperpyrexia syndrome. Although some provocation factors and clinical manifestations seem to be shared with parkinsonism hyperpyrexia syndrome, a clear distinction in management should be considered.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--3-154.jpg' border=0></p>Case ReportFri, 14 Jul 2017 00:00:01 +0100http://e-jmd.org/journal/view.php?number=192Spinal Myoclonus Responding to Continuous Intrathecal Morphine Pumphttp://e-jmd.org/journal/view.php?number=199
Spinal myoclonus is a sudden, brief, and involuntary movement of segmental or propriospinal muscle groups. Spinal myoclonus has occasionally been reported in patients undergoing opioid therapy, but the pathophysiology of opioid-induced myoclonus has not been elucidated yet. Here, we present two patients with spinal segmental myoclonus secondary to ischemic and radiation myelopathy. Conventional medications did not help treat persistent myoclonus in both legs. Continuous intrathecal morphine infusion was implanted for pain control in one patient, which relieved spinal myoclonus entirely. This experience led to the application of this method with a second patient, leading to the same gratifying result. Spinal myoclonus reemerged as soon as the morphine pumps were off, which confirmed the therapeutic role of opioids. In contrast to the opioid-induced myoclonus, these cases show a benefit of opioids on spinal myoclonus, which could be explained by synaptic reorganization after pathologic insults in the spinal cord.Case ReportTue, 12 Sep 2017 00:00:01 +0100http://e-jmd.org/journal/view.php?number=199Presynaptic Dopaminergic Degeneration in a Patient with Beta-Propeller Protein-Associated ...http://e-jmd.org/journal/view.php?number=200
Tue, 12 Sep 2017 00:00:01 +0100http://e-jmd.org/journal/view.php?number=200Liquid Levodopa/Carbidopa: Old Solution, Forgotten Complicationhttp://e-jmd.org/journal/view.php?number=194
Fri, 14 Jul 2017 00:00:01 +0100http://e-jmd.org/journal/view.php?number=194Missions of Journal of Movement Disordershttp://e-jmd.org/journal/view.php?number=149
Mon, 25 Jan 2016 00:00:01 +0100http://e-jmd.org/journal/view.php?number=149Clinical Approach to Progressive Supranuclear Palsyhttp://e-jmd.org/journal/view.php?number=150
Sixty years ago, Steele, Richardson and Olszewski designated progressive supranuclear palsy (PSP) as a new clinicopathological entity in their seminal paper. Since then, in addition to the classic Richardson’s syndrome (RS), different clinical phenotypic presentations have been linked with this four-repeat tauopathy. The clinical heterogeneity is associated with variability of regional distribution and severity of abnormal tau accumulation and neuronal loss. In PSP subtypes, the presence of certain clinical pointers may be useful for antemortem prediction of the underlying PSP-tau pathology. Midbrain atrophy on conventional MRI correlates with the clinical phenotype of RS but is not predictive of PSP pathology. Cerebrospinal fluid biomarkers and tau ligand positron emission tomography are promising biomarkers of PSP. A multidisciplinary approach to meet the patients’ complex needs is the current core treatment strategy for this devastating disorder.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-3.jpg' border=0></p>Review ArticleMon, 25 Jan 2016 00:00:01 +0100http://e-jmd.org/journal/view.php?number=150Mechanism of Anti-http://e-jmd.org/journal/view.php?number=151
Immunization therapy targeting α-synuclein has emerged as a promising approach for Parkinson’s disease and perhaps for other synucleinopathies. Several antibodies have shown therapeutic effects in mouse models of synucleinopathies and have alleviated the pathological and behavioral phenotypes of these mice. The mechanisms through which the immunization therapy works were initially puzzling, especially given that α-synuclein is a typical cytosolic protein. Recent studies, however, suggested that extracellular α-synuclein is an important pathogenic entity, and hence, a target for immunotherapy. Here, we review the literature describing immunization therapy for synucleinopathies in mouse models and provide current thoughts on the potential mechanisms underlying the therapeutic effects of α-synuclein immunotherapy. <BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-14.jpg' border=0></p>Review ArticleMon, 25 Jan 2016 00:00:01 +0100http://e-jmd.org/journal/view.php?number=151Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreanshttp://e-jmd.org/journal/view.php?number=152
Objective Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea.
Methods We collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN).
Results Four subtypes of NBIA including PKAN (<i>n</i> = 30), <i>PLA2G6</i>-related neurodegeneration (<i>n</i> = 2), beta-propeller protein-associated neurodegeneration (<i>n</i> = 1), and aceruloplasminemia (<i>n</i> = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN.
Conclusions We found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-20.jpg' border=0></p>Original ArticleMon, 25 Jan 2016 00:00:01 +0100http://e-jmd.org/journal/view.php?number=152Movement Disorders in Non-Wilsonian Cirrhotic Patients: A Report of the Prevalence and Risk ...http://e-jmd.org/journal/view.php?number=147
Objective
Parkinsonism and other movement disorders have previously been reported in the acquired hepatocerebral degeneration associated with portosystemic shunting. However, there is no study to date about their prevalence as has been noted in
general practice.
Methods
One hundred and forty-three patients with hepatic cirrhosis from the gastroenterology clinic and internal medicine wards were enrolled. Liver data included the diagnoses, etiologies, assessments of complications, and treatments for cirrhosis. Hepatic encephalopathy was classified with regard to the West Haven criteria for semi-quantitative grading for mental status. Neurological
examination results and abnormal involuntary movements were recorded as primary outcomes. Neuro-radiology was used for the detection of severe brain lesions.
Results
Alcoholism was the most common cause of liver cirrhosis. Eighty-three patients (58%) presented with movement disorders. Asterixis was found in one of the cases. The most common movement disorder seen was an intentional tremor at 37.1%, which was followed by bradykinesia, Parkinsonism, and postural tremors at 29.4%, 10.5%, and 6.3%, respectively. The prevalence of movement disorders simultaneously increased with a high Child-Turcotte-Pugh score. The hepatic encephalopathy was grade 1 and 2. With the inclusion of age-range adjustments, we found that alcoholic cirrhosis and hepatic encephalopathy are statistically
significant factors [p < 0.05, odds ratio (OR) = 6.41, 95% confidence interval (CI) 1.38?29.71 and p < 0.001, OR = 13.65, 95% CI 4.71?39.54] for the development of movement disorders in non-Wilsonian cirrhotic patients. Conclusions
Intentional tremor is a common abnormal movement. Alcoholic cirrhosis and hepatic encephalopathy are significant risk factors in the development of movement disorders in non-Wilsonian cirrhotic patients.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-28.jpg' border=0></p>Original ArticleThu, 03 Dec 2015 00:00:01 +0100http://e-jmd.org/journal/view.php?number=147N30 Somatosensory Evoked Potential Is Negatively Correlated with Motor Function in Parkinsonhttp://e-jmd.org/journal/view.php?number=153
ObjectiveaaThe aim of this study was to investigate frontal N30 status in Parkinson’s disease (PD) and to examine the correlation between the amplitude of frontal N30 and the severity of motor deficits.
MethodsaaThe frontal N30 was compared between 17 PD patients and 18 healthy volunteers. Correlations between the amplitude of frontal N30 and the Unified Parkinson’s Disease Rating Scale (UPDRS) motor score of the more severely affected side was examined.
ResultsaaThe mean latency of the N30 was not significantly different between patients and healthy volunteers (<i>p</i> = 0.981), but the mean amplitude was lower in PD patients (<i>p</i> < 0.025). There was a significant negative correlation between the amplitude of N30 and the UPDRS motor score (<i>r</i> = -0.715, <i>p</i> = 0.013).
Conclusions The frontal N30 status indicates the motor severity of PD. It can be a useful biomarker reflecting dopaminergic deficits and an objective measurement for monitoring the clinical severity of PD.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-35.jpg' border=0></p>Original ArticleMon, 25 Jan 2016 00:00:01 +0100http://e-jmd.org/journal/view.php?number=153Can Postural Instability Respond to Galvanic Vestibular Stimulation in Patients with Parkinsonhttp://e-jmd.org/journal/view.php?number=146
Objective Galvanic vestibular stimulation (GVS) activates the vestibular afferents, and these changes in vestibular input exert a strong influence on the subject’s posture or standing balance. In patients with Parkinson’s disease (PD), vestibular dysfunction might contribute to postural instability and gait disorders.
Methods Current intensity was increased to 0.7 mA, and the current was applied to the patients for 20 minutes. To perform a sham stimulation, the current intensity was increased as described and then decreased to 0 mA over the course of 10 seconds. The patient’s status was recorded continuously for 20 minutes with the patient in the supine position.
Results Three out of 5 patients diagnosed with PD with postural instability and/or abnormal axial posture showed a reduction in postural instability after GVS. The score for item 12 of the revised Unified Parkinson’s Disease Rating Scale part 3 was decreased in these patients.
Conclusions The mechanism of postural instability is complex and not completely understood. In 2 out of the 5 patients, postural instability was not changed in response to GVS. Nonetheless, the GVS-induced change in postural instability for 3 patients in our study suggests that GVS might be a therapeutic option for postural instability.
Original ArticleThu, 03 Dec 2015 00:00:01 +0100http://e-jmd.org/journal/view.php?number=146Reduced Neck Muscle Strength and Altered Muscle Mechanical Properties in Cervical Dystonia ...http://e-jmd.org/journal/view.php?number=154
Objective To evaluate changes in the strength and mechanical properties of neck muscles and disability in patients with cervical dystonia (CD) during a 12-week period following botulinum neurotoxin (BoNT) injections.
Methods Eight patients with CD volunteered for this prospective clinical cohort study. Patients had received BoNT injections regularly in neck muscles at three-month intervals for several years. Maximal isometric neck strength was measured by a dynamometer, and the mechanical properties of the splenius capitis were evaluated using two myotonometers. Clinical assessment was performed using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) before and at 2, 4, 8, and 12 weeks after the BoNT injections.
Results Mean maximal isometric neck strength at two weeks after the BoNT injections decreased by 28% in extension, 25% in rotation of the affected side and 17% in flexion. At four weeks, muscle stiffness of the affected side decreased by 17% and tension decreased by 6%. At eight weeks, the muscle elasticity on the affected side increased by 12%. At two weeks after the BoNT injections, the TWSTRS-severity and TWSTRS-total scores decreased by 4.3 and 6.4, respectively. The strength, muscle mechanical properties and TWSTRS scores returned to baseline values at 12 weeks.
Conclusions Although maximal neck strength and muscle tone decreased after BoNT injections, the disability improved. The changes observed after BoNT injections were temporary and returned to pre-injection levels within twelve weeks. Despite having a possible negative effect on function and decreasing neck strength, the BoNT injections improved the patients reported disability.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-44.jpg' border=0></p>Original ArticleMon, 25 Jan 2016 00:00:01 +0100http://e-jmd.org/journal/view.php?number=154Acute Chorea Onset after Hot Food Consumption in a Patient with Moyamoya Diseasehttp://e-jmd.org/journal/view.php?number=155
Mon, 25 Jan 2016 00:00:01 +0100http://e-jmd.org/journal/view.php?number=155The Problem of Functionalhttp://e-jmd.org/journal/view.php?number=148
Thu, 03 Dec 2015 00:00:01 +0100http://e-jmd.org/journal/view.php?number=148Non-Invasive Brain Stimulation for Treatment of Focal Hand Dystonia: Update and Future Directionhttp://e-jmd.org/journal/view.php?number=161
Focal hand dystonia (FHD) is characterized by excessive and unwanted muscle activation in both the hand and arm resulting in impaired performance in particular tasks. Understanding the pathophysiology of FHD has progressed significantly for several decades and this has led to consideration of other potential therapies such as non-invasive brain stimulation (NIBS). A number of studies have been conducted to develop new therapy for FHD using transcranial magnetic stimulation and transcranial direct current stimulation. In this paper, we review previous studies and describe the potential therapeutic use of NIBS for FHD. We also discuss the future direction of NIBS to treat FHD.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--2-55.jpg' border=0></p>Review ArticleWed, 25 May 2016 00:00:00 +0100http://e-jmd.org/journal/view.php?number=161Movement Disorders Following Cerebrovascular Lesions: Etiology, Treatment Options and Prognosishttp://e-jmd.org/journal/view.php?number=162
Post-stroke movement disorders are uncommon, but comprise an important part of secondary movement disorders. These exert variable and heterogeneous clinical courses according to the stroke lesion and its temporal relationships. Moreover, the predominant stroke symptoms hinder a proper diagnosis in clinical practice. This article describes the etiology, treatment options and prognosis of post-stroke movement disorders.Review ArticleWed, 25 May 2016 00:00:00 +0100http://e-jmd.org/journal/view.php?number=162Movement Disorders Following Cerebrovascular Lesion in the Basal Ganglia Circuithttp://e-jmd.org/journal/view.php?number=163
Movement disorders are primarily associated with the basal ganglia and the thalamus; therefore, movement disorders are more frequently manifest after stroke compared with neurological injuries associated with other structures of the brain. Overall clinical features, such as types of movement disorder, the time of onset and prognosis, are similar with movement disorders after stroke in other structures. Dystonia and chorea are commonly occurring post-stroke movement disorders in basal ganglia circuit, and these disorders rarely present with tremor. Rarer movement disorders, including tic, restless leg syndrome, and blepharospasm, can also develop following a stroke. Although the precise mechanisms underlying the pathogenesis of these conditions have not been fully characterized, disruptions in the crosstalk between the inhibitory and excitatory circuits resulting from vascular insult are proposed to be the underlying cause. The GABA (gamma-aminobutyric acid)ergic and dopaminergic systems play key roles in post-stroke movement disorders. This review summarizes movement disorders induced by basal ganglia and thalamic stroke according to the anatomical regions in which they manifest.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--2-71.jpg' border=0></p>Review ArticleWed, 25 May 2016 00:00:00 +0100http://e-jmd.org/journal/view.php?number=163Movement Disorders Following Cerebrovascular Lesions in Cerebellar Circuitshttp://e-jmd.org/journal/view.php?number=164
Cerebellar circuitry is important to controlling and modifying motor activity. It conducts the coordination and correction of errors in muscle contractions during active movements. Therefore, cerebrovascular lesions of the cerebellum or its pathways can cause diverse movement disorders, such as action tremor, Holmes’ tremor, palatal tremor, asterixis, and dystonia. The pathophysiology of abnormal movements after stroke remains poorly understood. However, due to the current advances in functional neuroimaging, it has recently been described as changes in functional brain networks. This review describes the clinical features and pathophysiological mechanisms in different types of movement disorders following cerebrovascular lesions in the cerebellar circuits.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--2-80.jpg' border=0></p>Review ArticleWed, 25 May 2016 00:00:00 +0100http://e-jmd.org/journal/view.php?number=164Cerebrospinal Fluid Amyloid http://e-jmd.org/journal/view.php?number=165
Parkinson’s disease (PD) is a neurodegenerative disease with heterogeneous pathological and clinical features. Cognitive dysfunction, a frequent non-motor complication, is a risk factor for poor prognosis and shows inter-individual variation in its progression. Of the clinical studies performed to identify biomarkers of PD progression, the Parkinson’s Progression Markers Initiative (PPMI) study is the largest study that enrolled drug-na?ve and very early stage PD patients. The baseline characteristics of the PPMI cohort were recently published. The diagnostic utility of cerebrospinal fluid (CSF) biomarkers, including alpha-synuclein (α-syn), total tau, phosphorylated tau at Thr<sub>181</sub>, and amyloid β<sub>1-42</sub>, was not satisfactory. However, the baseline data on CSF biomarkers in the PPMI study suggested that the measurement of the CSF biomarkers enables the prediction of future cognitive decline in PD patients, which was consistent with previous studies. To prove the hypothesis that the interaction between Alzheimer’s pathology and α-syn pathology is important to the progression of cognitive dysfunction in PD, longitudinal observational studies must be followed. In this review, the neuropathological nature of heterogeneous cognitive decline in PD is briefly discussed, followed by a summarized interpretation of baseline CSF biomarkers derived from the data in the PPMI study. The combination of clinical, biochemical, genetic and imaging biomarkers of PD constitutes a feasible strategy to predict the heterogeneous progression of PD.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--2-89.jpg' border=0></p>Review ArticleWed, 25 May 2016 00:00:00 +0100http://e-jmd.org/journal/view.php?number=165Cardiovascular Autonomic Dysfunction in Mild and Advanced Parkinsonhttp://e-jmd.org/journal/view.php?number=160
Objective
The purpose of the present study was to investigate cardiovascular autonomic dysfunction in patients with Parkinson’s disease (PD) with mild to severe stages of motor symptoms and to compare cardiovascular autonomic dysfunction between drug-na?ve and dopaminergic drug-treated groups.
Methods
This study included 188 PD patients and 25 age-matched healthy controls who underwent head-up tilt-testing, 24-h ambulatory blood pressure (BP) monitoring and 24-h Holter monitoring. Autonomic function test results were evaluated among groups categorized by motor symptom severities (mild vs. moderate vs. severe) and treatment (drug-na?ve or dopaminergic drug treatment).
Results
Orthostatic hypotension and supine hypertension were more frequent in patients with PD than in healthy controls. The frequencies of orthostatic hypotension, supine hypertension, nocturnal hypertension and non-dipping were not different among groups. Additionally, no significant differences were detected in supine BP, orthostatic BP change, nighttime BP, nocturnal BP dipping, or heart rate variabilities among groups.
Conclusions
Cardiovascular autonomic dysfunction is not confined to moderate to severe PD patients, and starts early in the course of the disease in a high proportion of PD patients. In addition, dopaminergic drug treatments do not affect cardiovascular autonomic function.Original ArticleMon, 28 Mar 2016 00:00:00 +0100http://e-jmd.org/journal/view.php?number=160Movement Disorders in Non-Wilsonian Hepatic Cirrhotic Patients: The Subgroup Analysis of ...http://e-jmd.org/journal/view.php?number=158
Objective
The aim of this subgroup analysis was to identify the risk factors associated with the development of various movement disorder phenotypes.
Methods
Eighty-three non-Wilsonian cirrhotic patients with abnormal movements were allocated into the following groups: intention tremor, bradykinesia, Parkinsonism, and abnormal ocular movements. These movement types were considered the primary outcomes as there was a sufficient sample size. Researchers took into consideration the gender, etiologies of cirrhosis, cirrhosis-related complications, hepatic encephalopathy, medical illness, and some neurological deficits as potential factors associated with these movement disorders.
Results
The male gender (<i>p</i> = 0.002) and alcoholic cirrhosis (<i>p</i> = 0.005) were significant factors for the prevalence of intention tremors. In bradykinesia, hepatic encephalopathy was highly statistically significant (<i>p</i> < 0.001), and females more commonly developed bradykinesia (<i>p</i> = 0.04). The Parkinsonism features in this study were confounded by hyperlipidemia (<i>p</i> = 0.04) and motor or sensory deficits (<i>p</i> = 0.02). Jerky pursuits and a horizontal nystagmus were detected. Jerky pursuits were significantly related to hepatic encephalopathy (<i>p</i> = 0.003) and bradykinesia, but there were no factors associated with the prevalence of nystagmus other than an intention tremor.
Conclusions
The association of alcoholic cirrhosis with the development of intention tremor indicates that the persistent cerebellar malfunction in cirrhotic patients is due to alcohol toxicity. The slowness of finger tapping and jerky pursuit eye movements are significantly associated with hepatic encephalopathy. Thus, further studies are needed to evaluate the diagnostic value of these two signs for an early detection of mild hepatic encephalopathy.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--2-104.jpg' border=0></p>Original ArticleMon, 28 Mar 2016 00:00:00 +0100http://e-jmd.org/journal/view.php?number=158Rapid Eye Movement Sleep Behavior Disorder in Parkinsonhttp://e-jmd.org/journal/view.php?number=156
Objective
Rapid eye movement sleep behavior disorder (RBD) is associated with α-synucleinopathies, such as Parkinson’s disease (PD). We aimed to assess the differences in the clinical characteristics of PD with and without RBD.
Methods
Forty-two patients previously diagnosed with PD were evaluated for clinical history, motor and cognitive functioning using the Unified Parkinson’s Disease Rating Scale (UPDRS) and Mini-Mental State Examination (MMSE), autonomic symptoms, sleep characteristics using the Pittsburg Sleep Quality Index (PSQI), and the presence of RBD using the Korean version of the RBD screening questionnaire (RBDSQ). The prevalence of RBD and the patients’ demographic features were evaluated. The patients were classified into two groups, PD with RBD and PD without RBD, based on the RBDSQ scores. The motor and cognitive functions, as well as other clinical features of the two groups were compared.
Results
A total of 42 PD patients were enrolled. Eighteen patients were classified as PD with RBD. Compared to PD without RBD, PD with RBD showed higher scores of rigidity in the UPDRS subscale. Regarding sleep problems, PD with RBD revealed higher sleep disturbance, lower sleep efficiency, and lower overall sleep quality in the PSQI. There was no difference in cognitive dysfunction between the two groups according to the Korean version of the MMSE.
Conclusions
PD with RBD was associated with poorer sleep and motor symptoms. Therefore, RBD symptoms in PD are possibly poor prognostic markers.Original ArticleWed, 02 Mar 2016 00:00:00 +0100http://e-jmd.org/journal/view.php?number=156Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutationhttp://e-jmd.org/journal/view.php?number=166
Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited neurodegenerative disorders characterized iron accumulation in the brain, and it is caused by mutations of the <i>C2orf37</i> gene. We report the first Tunisian family with two affected sisters presenting with a phenotype suggestive of WSS. We examined the index patient presenting with movement disorders and mental retardation and then searched for similar cases in her family, which identified a sister with similar signs. We performed a genetic study that confirmed the diagnosis and revealed a c.436delC mutation of the <i>C2orf37</i> gene. Therefore, WSS is an important consideration in patients presenting with movement disorders and intellectual disability. A high consanguinity contributes to the clustering of such rare autosomal recessive syndromes.Case ReportWed, 25 May 2016 00:00:01 +0100http://e-jmd.org/journal/view.php?number=166Tremor in a Bassoonist: Tremor in Dystonia or Essential Tremor?http://e-jmd.org/journal/view.php?number=157
Wed, 02 Mar 2016 00:00:00 +0100http://e-jmd.org/journal/view.php?number=157Dropped Head Syndrome after Minor Trauma in a Patient with Levosulpiride-Aggravated Vascular ...http://e-jmd.org/journal/view.php?number=159
<BR><p align='center'><img src='/upload/thumbnails/jmd-main--2-126.jpg' border=0></p>Mon, 28 Mar 2016 00:00:00 +0100http://e-jmd.org/journal/view.php?number=159Episodic Ataxias: Clinical and Genetic Featureshttp://e-jmd.org/journal/view.php?number=167
Episodic ataxia (EA) is a clinically heterogeneous group of disorders that are characterized by recurrent spells of truncal ataxia and incoordination lasting minutes to hours. Most have an autosomal dominant inheritance pattern. To date, 8 subtypes have been defined according to clinical and genetic characteristics, and five genes are known to be linked to EAs. Both EA1 and EA2, which are caused by mutations in <i>KCNA1</i> and <i>CACNA1A</i>, account for the majority of EA, but many patients with no identified mutations still exhibit EA-like clinical features. Furthermore, genetically confirmed EAs have mostly been identified in Caucasian families. In this article, we review the current knowledge on the clinical and genetic characteristics of EAs. Additionally, we summarize the phenotypic features of the genetically confirmed EA2 families in Korea.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--3-129.jpg' border=0></p>Review ArticleWed, 21 Sep 2016 00:00:00 +0100http://e-jmd.org/journal/view.php?number=167Applications of CRISPR/Cas9 for Gene Editing in Hereditary Movement Disordershttp://e-jmd.org/journal/view.php?number=168
Gene therapy is a potential therapeutic strategy for treating hereditary movement disorders, including hereditary ataxia, dystonia, Huntington’s disease, and Parkinson’s disease. Genome editing is a type of genetic engineering in which DNA is inserted, deleted or replaced in the genome using modified nucleases. Recently, clustered regularly interspaced short palindromic repeat/CRISPR associated protein 9 (CRISPR/Cas9) has been used as an essential tool in biotechnology. Cas9 is an RNA-guided DNA endonuclease enzyme that was originally associated with the adaptive immune system of <i>Streptococcus pyogenes</i> and is now being utilized as a genome editing tool to induce double strand breaks in DNA. CRISPR/Cas9 has advantages in terms of clinical applicability over other genome editing technologies such as zinc-finger nucleases and transcription activator-like effector nucleases because of easy <i>in vivo</i> delivery. Here, we review and discuss the applicability of CRISPR/Cas9 to preclinical studies or gene therapy in hereditary movement disorders.Review ArticleWed, 21 Sep 2016 00:00:00 +0100http://e-jmd.org/journal/view.php?number=168Cognition and Visit-to-Visit Variability of Blood Pressure and Heart Rate in De Novo Patients ...http://e-jmd.org/journal/view.php?number=169
Objective We sought to identify whether the characteristics of long-term visit-to-visit blood pressure (BP) and heart rate (HR) are related to baseline cognitive profiles in, Parkinson’s disease (PD).
Methods We selected drug-na?ve PD patients who visited our hospital at least 10 times with a baseline assessment of the Seoul neuropsychological battery. BP and HR were measured at each visit, and the variability of the systolic BP/diastolic BP (DBP) and HR was derived from the parameters of serial 10 office visits. Mild cognitive impairment (MCI) in PD patients was determined according to the proposed criteria with a cut-off value of z-score ≤ -2.
Results Forty-seven patients with PD (mean follow-up duration = 22.3 months) were enrolled in the study. Compared with non-MCI PD patients, MCI PD patients revealed a significant increase in HR and/or variability in DBP.
Conclusion This exploratory study showed that baseline cognition in drug-na?ve PD patients might be related to the visit-to-visit variability of DBP and/or HR.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--3-144.jpg' border=0></p>Original ArticleWed, 21 Sep 2016 00:00:00 +0100http://e-jmd.org/journal/view.php?number=169The MMSE and MoCA for Screening Cognitive Impairment in Less Educated Patients with Parkinsonhttp://e-jmd.org/journal/view.php?number=170
Objective To explore whether the Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) can be used to screen for dementia or mild cognitive impairment (MCI) in less educated patients with Parkinson’s disease (PD).
Methods We reviewed the medical records of PD patients who had taken the Korean MMSE (K-MMSE), Korean MoCA (K-MoCA), and comprehensive neuropsychological tests. Predictive values of the K-MMSE and K-MoCA for dementia or MCI were analyzed in groups divided by educational level.
Results The discriminative powers of the K-MMSE and K-MoCA were excellent [area under the curve (AUC) 0.86?0.97] for detecting dementia but not for detecting MCI (AUC 0.64?0.85). The optimal screening cutoff values of both tests increased with educational level for dementia (K-MMSE < 15 for illiterate, < 20 for 0.5?3 years of education, < 23 for 4?6 years, < 25 for 7?9 years, and < 26 for 10 years or more; K-MoCA < 7 for illiterate, < 13 for 0.5?3 years, < 16 for 4?6 years, < 19 for 7?9 years, < 20 for 10 years or more) and MCI (K-MMSE < 19 for illiterate, < 26 for 0.5?3 years, < 27 for 4?6 years, < 28 for 7?9 years, and < 29 for 10 years or more; K-MoCA < 13 for illiterate, < 21 for 0.5?3 years, < 23 for 4?6 years, < 25 for 7?9 years, < 26 for 10 years or more).
Conclusion Both MMSE and MoCA can be used to screen for dementia in patients with PD, regardless of educational level; however, neither test is sufficient to discriminate MCI from normal cognition without additional information.Original ArticleWed, 21 Sep 2016 00:00:00 +0100http://e-jmd.org/journal/view.php?number=170Falls and Their Associated Risks in Parkinsonhttp://e-jmd.org/journal/view.php?number=171
Objective Falls are a devastating consequence of Parkinson’s disease (PD) and are due to motor imbalance. However, the frequency of falls and their risk factors among Nigerians with PD is not known despite the significant increase in PD cases in the country. To assess fall risk factors and frequency in Nigerian PD patients.
Methods Using an analytical design to compare falling versus non-falling patients, 81 PD patients were assessed for clinical factors, frequency of falls, and candidate risk factors for falls according to the Tinetti Balance and Gait, Unified Parkinson’s Disease Rating Scale subsection 1, and Timed Up and Go Tests. Descriptive, bivariate, and multivariate analyses were performed at the 95% confidence level.
Results The mean age of participants was 65.6 ± 9.7 years. Falls were about three times (<i>p</i> < 0.001) more common in PD patients. Of the falling patients, 67.7% sustained injuries, 67.7% had recurrent falls and 44.9% admitted to having a fear of falling. The independent statistical predictors of fall were fear of falling [odds ratio (OR): 3.86], disease severity (OR: 1.09) and disease duration (OR: 1.01).
Conclusion The frequency of falls in PD patients was significantly higher when compared with the healthy adult population, and the modifiable predictor was fear of falling with a potential to significantly reduce falls when strategically addressed.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--3-160.jpg' border=0></p>Original ArticleWed, 21 Sep 2016 00:00:00 +0100http://e-jmd.org/journal/view.php?number=171Survival of Korean Huntingtonhttp://e-jmd.org/journal/view.php?number=172
Objective The survival of Huntington’s disease (HD) patients is reported to be 15?20 years. However, most studies on the survival of HD have been conducted in patients without genetic confirmation with the possible inclusion of non-HD patients, and all studies have been conducted in Western countries. The survival of patients with HD in East Asia, where its prevalence is 10?50-fold lower compared with Western populations, has not yet been reported.
Methods Forty-seven genetically confirmed Korean HD patients from independent families were included in this retrospective medical record review study.
Results The mean age at onset among the 47 patients was 46.1 ± 14.0 years. At the time of data collection, 25 patients had died, and these patients had a mean age at death of 57.8 ± 13.7 years. The Kaplan-Meier estimate of the median survival from onset in the 47 patients was 14.5 years (95% confidence interval: 12.3?16.6). None of the following factors were associated with the survival time in the univariate Cox regression analysis: gender, age at onset, normal CAG repeat size, mutant CAG repeat size, and the absence or presence of non-motor symptoms at onset.
Conclusion This is the first Asian study on survival in HD patients. Survival in Korean HD patients may be shorter than that reported for Western populations, or at least is in the lower range of expected survival. A larger longitudinal observation study is needed to confirm the results found in this study.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--3-166.jpg' border=0></p>Original ArticleWed, 21 Sep 2016 00:00:00 +0100http://e-jmd.org/journal/view.php?number=172Neurodegeneration with Brain Iron Accumulation: Diagnosis and Managementhttp://e-jmd.org/journal/view.php?number=123
Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of inherited disorders that share the clinical features of an extrapyramidal movement disorder accompanied by varying degrees of intellectual disability and abnormal iron deposition in the basal ganglia. The genetic basis of ten forms of NBIA is now known. The clinical features of NBIA range from rapid global neurodevelopmental regression in infancy to mild parkinsonism with minimal cognitive impairment in adulthood, with wide variation seen between and within the specific NBIA sub-type. This review describes the clinical presentations, imaging findings, pathologic features, and treatment considerations for this heterogeneous group of disorders.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-1.jpg' border=0></p>Review ArticleSat, 31 Jan 2015 00:00:00 +0100http://e-jmd.org/journal/view.php?number=123Current Status of Huntingtonhttp://e-jmd.org/journal/view.php?number=124
<b>Objective</b> Huntington’s disease (HD) is a rare neurological disorder, and its current status in Korea is not well investigated. This study aims to determine the prevalence and incidence of HD and to investigate the clinical features of HD patients in Korea.<br>
<b>Methods</b> We estimated the crude prevalence and annual incidence of HD based on the databases of the Rare Diseases Registry (RDR) and the National Health Insurance (NHI). The clinical data of genetically confirmed HD patients was collected from 10 referral hospitals and analyzed.<br>
<b>Results</b> The mean calculated annual incidence was 0.06 cases per 100,000 persons, and the mean calculated prevalence was 0.38 based on the NHI database. The estimated crude prevalence based on the RDR was 0.41. Of the sixty-eight HD patients recruited, the mean age of onset was 44.16 ± 14.08 years and chorea was most frequently reported as the initial symptom and chief complaint. The mean CAG repeat number of the expanded allele was 44.7 ± 4.8 and correlated inversely with the age of onset (<i>p</i> < 0.001). About two-thirds of the patients have a positive family history, and HD patients without positive family history showed a delay in onset of initial symptoms, a prolonged interval between initial symptom onset and genetic diagnosis and a delay in the age of genetic diagnosis.<br>
<b>Conclusions</b> To the best of our knowledge, this is the first study to estimate the prevalence and incidence of HD in Korea and the largest HD series in the Asian population. Our analyses might be useful for further studies and large-scale investigations in HD patients.<br><BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-14.jpg' border=0></p>Original ArticleSat, 31 Jan 2015 00:00:00 +0100http://e-jmd.org/journal/view.php?number=124Apathy and Olfactory Dysfunction in Early Parkinsonhttp://e-jmd.org/journal/view.php?number=125
<b>Objective</b> Olfactory and emotional dysfunctions are very common in patients with Parkinson’s disease (PD). Olfaction and emotions share common neuroanatomical substrates. Therefore, in this study, we evaluated the association between olfactory and emotional dysfunctions in patients with PD.<br>
<b>Methods</b> Parkinson’s disease patients who had been assessed for their olfactory function and neuropsychiatric symptoms including emotional dysfunction were included. A logistic regression analysis was performed to evaluate the association between low olfaction and different neuropsychiatric symptoms.<br>
<b>Results</b> The patients with low olfaction (cross cultural smell identification test score ≤ 6) showed a higher prevalence of apathy when compared with those with high olfaction, whereas the frequencies of other neuropsychiatric symptoms were comparable between the two groups. A multivariate logistic regression analysis revealed that the presence of apathy/indifference [odds ratio (OR) = 2.859, <i>p</i> = 0.007], age 70 years or more (OR = 2.281, <i>p</i> = 0.009), and the male gender (OR = 1.916, <i>p</i> = 0.030) were significantly associated with low olfaction.<br>
<b>Conclusions</b> Our results demonstrate that apathy/indifference is a unique emotional dysfunction associated with olfactory dysfunction in PD. The findings also suggest that PD patients with low olfaction have a high prevalence of apathy.<br>Original ArticleSat, 31 Jan 2015 00:00:00 +0100http://e-jmd.org/journal/view.php?number=125Neuropsychiatric Symptoms in Parkinsonhttp://e-jmd.org/journal/view.php?number=126
<b>Objective</b> Neuropsychiatric symptoms are common in Parkinson’s disease dementia (PDD). Frequent and severe neuropsychiatric symptoms create high levels of distress for patients and caregivers, decreasing their quality of life. The aim of this study was to investigate neuropsychiatric symptoms that may contribute to increased caregiver burden in PDD patients.<br>
<b>Methods</b> Forty-eight PDD patients were assessed using the 12-item Neuropsychiatric Inventory (NPI) to determine the frequency and severity of mental and behavioral problems. The Burden Interview and Caregiver Burden Inventory were used to evaluate caregiver burden.<br>
<b>Results</b> All but one patient showed one or more neuropsychiatric symptoms. The three most frequent neuropsychiatric symptoms were apathy (70.8%) and anxiety (70.8%), followed by depression (68.7%). More severe neuropsychiatric symptoms were significantly correlated with increased caregiver burden. The domains of delusion, hallucination, agitation and aggression, anxiety, irritability and lability, and aberrant motor behavior were associated with caregiver stress. After controlling for age and other potential confounding variables, total NPI score was significantly associated with caregiver burden.<br>
<b>Conclusions</b> The results of this study confirm that neuropsychiatric symptoms are frequent and severe in patients with PDD and are associated with increased caregiver distress. A detailed evaluation and management of neuropsychiatric symptoms in PDD patients appears necessary to improve patient quality of life and reduce caregiver burden.<br>Original ArticleSat, 31 Jan 2015 00:00:00 +0100http://e-jmd.org/journal/view.php?number=126Ataxia with Vitamin E Deficiency in Norwayhttp://e-jmd.org/journal/view.php?number=127
<b>Objective</b> Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurological disorder which usually starts in childhood. The clinical presentation is very similar to Friedreich ataxia, most patients have progressive truncal and extremity ataxia, areflexia, positive Babinski sign, dysarthria and sensory neuropathy.<br>
<b>Methods</b> We made an inquiry to our colleagues in Norway, we included information from a prevalence study published southern Norway and added data from our own known case.<br>
<b>Results</b> A newly published prevalence study of hereditary ataxias (total of 171 subjects) found only one subject with AVED in Southeast Norway. We describe two more patients, one from the Central part and one from the Northern part of Norway. All 3 cases had age of onset in early childhood (age of 4?5 years) and all experienced gait ataxia and dysarthria. The genetic testing confirmed that they had pathogenic mutations in the α-tocopherol transfer protein gene (<i>TTPA</i>). All were carriers of the non-sense c.400C > T mutation, one was homozygous for that mutation and the others were compound heterozygous, either with c.358G > A or c.513_514insTT. The homozygous carrier was by far the most severely affected case.<br>
<b>Conclusions</b> We estimate the occurrence of AVED in Norway to be at least 0.6 per million inhabitants. We emphasize that all patients who develop ataxia in childhood should be routinely tested for AVED to make an early diagnosis for initiating treatment with high dose vitamin E to avoid severe neurological deficits.<br>Original ArticleSat, 31 Jan 2015 00:00:00 +0100http://e-jmd.org/journal/view.php?number=127A Patient with Unilateral Periodic Leg Movements Associated with Pontine Infarctionhttp://e-jmd.org/journal/view.php?number=128
<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-37.jpg' border=0></p>Sat, 31 Jan 2015 00:00:00 +0100http://e-jmd.org/journal/view.php?number=128Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromeshttp://e-jmd.org/journal/view.php?number=129
There have been significant advances in neuroacanthocytosis (NA) syndromes in the past 20 years, however, confusion still exists regarding the precise nature of these disorders and the correct nomenclature. This article seeks to clarify these issues and to summarise the recent literature in the field. The four key NA syndromes are described here?chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2, and pantothenate kinase- associated neurodegeneration. In the first two, acanthocytosis is a frequent, although not invariable, finding; in the second two, it occurs in approximately 10% of patients. Degeneration affecting the basal ganglia is the key neuropathologic finding, thus the clinical presentations can be remarkably similar. The characteristic phenotype comprises a variety of movement disorders, including chorea, dystonia, and parkinsonism, and also psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. The age of onset, inheritance patterns, and ethnic background differ in each condition, providing diagnostic clues. Other investigations, including routine blood testing and neuroimaging can be informative. Genetic diagnosis, if available, provides a definitive diagnosis, and is important for genetic counseling, and hopefully molecular therapies in the future. In this article I provide a historical perspective on each NA syndrome. The first 3 disorders, chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2, are discussed in detail, with a comprehensive review of the literature to date for each, while pantothenate kinase-associated neurodegeneration is presented in summary, as this disorder has recently been reviewed in this journal. Therapy for all of these diseases is, at present, purely symptomatic.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--2-41.jpg' border=0></p>Review ArticleSun, 31 May 2015 00:00:01 +0100http://e-jmd.org/journal/view.php?number=129123I-Metaiodobenzylguanidine Myocardial Scintigraphy in Lewy Body-Related Disorders: A ...http://e-jmd.org/journal/view.php?number=130
Lewy body-related disorders are characterized by the presence of Lewy bodies and Lewy neurites, which have abnormal aggregations of α-synuclein in the nigral and extranigral areas, including in the heart. 123I-metaiodobenzylguanidine (MIBG) scintigraphy is a well-known tool to evaluate cardiac sympathetic denervation in the Lewy body-related disorders. MIBG scintigraphy showed low uptake of MIBG in the Lewy body-related disorders, including Parkinson’s disease, dementia with Lewy bodies, pure autonomic failure and rapid eye movement sleep behavior disorder. This review summarizes previous results on the diagnostic applications of MIBG scintigraphy in Lewy body-related disorders.Review ArticleSun, 31 May 2015 00:00:01 +0100http://e-jmd.org/journal/view.php?number=130Hereditary Cerebellar Ataxias: A Korean Perspectivehttp://e-jmd.org/journal/view.php?number=131
Hereditary ataxia is a heterogeneous disorder characterized by progressive ataxia combined with/without peripheral neuropathy, extrapyramidal symptoms, pyramidal symptoms, seizure, and multiple systematic involvements. More than 35 autosomal dominant cerebellar ataxias have been designated as spinocerebellar ataxia, and there are 55 recessive ataxias that have not been named systematically. Conducting genetic sequencing to confirm a diagnosis is difficult due to the large amount of subtypes with phenotypic overlap. The prevalence of hereditary ataxia can vary among countries, and estimations of prevalence and subtype frequencies are necessary for planning a diagnostic strategy in a specific population. This review covers the various hereditary ataxias reported in the Korean population with a focus on the prevalence and subtype frequencies as the clinical characteristics of the various subtypes.Review ArticleSun, 31 May 2015 00:00:01 +0100http://e-jmd.org/journal/view.php?number=131Gastrointestinal Autonomic Dysfunction in Patients with Parkinsonhttp://e-jmd.org/journal/view.php?number=132
Currently, gastrointestinal dysfunctions in Parkinson’s disease (PD) are well-recognized problems and are known to be an initial symptom in the pathological process that eventually results in PD. Gastrointestinal symptoms may result from the involvement of either the central or enteric nervous systems, or these symptoms may be side effects of antiparkinsonian medications. Weight loss, excessive salivation, dysphagia, nausea/gastroparesis, constipation, and defecation dysfunction all may occur. Increased identification and early detection of these symptoms can result in a significant improvement in the quality of life for PD patients.Review ArticleSun, 31 May 2015 00:00:01 +0100http://e-jmd.org/journal/view.php?number=132Nonmotor Symptoms and Subthalamic Deep Brain Stimulation in Parkinsonhttp://e-jmd.org/journal/view.php?number=133
Subthalamic deep brain stimulation (STN DBS) is an established treatment for the motor symptoms in patients with advanced Parkinson’s disease (PD). In addition to improvements in motor symptoms, many studies have reported changes in various nonmotor symptoms (NMSs) after STN DBS in patients with PD. Psychiatric symptoms, including depression, apathy, anxiety, and impulsivity, can worsen or improve depending on the electrical stimulation parameters, the locations of the stimulating contacts within the STN, and changes in medications after surgery. Global cognitive function is not affected by STN DBS, and there is no increase in the incidence of dementia after STN DBS compared to that after medical treatment, although clinically insignificant declines in verbal fluency have been consistently reported. Pain, especially PD-related pain, improves with STN DBS. Evidence regarding the effects of STN DBS on autonomic symptoms and sleep-related problems is limited and remains conflicting. Many symptoms of nonmotor fluctuations, which are occasionally more troublesome than motor fluctuations, improve with STN DBS. Although it is clear that NMSs are not target symptoms for STN DBS, NMSs have a strong influence on the quality of life of patients with PD, and clinicians should thus be aware of these NMSs when deciding whether to perform surgery and should pay attention to changes in these symptoms after STN DBS to ensure the optimal care for patients.Review ArticleSun, 31 May 2015 00:00:01 +0100http://e-jmd.org/journal/view.php?number=133Many Faces of Parkinsonhttp://e-jmd.org/journal/view.php?number=134
Parkinson’s disease (PD) is a multi-systemic disorder that is characterized by a combination of motor and non-motor symptoms (NMS). The dopaminergic neurodegeneration of PD is involved in the genesis of NMS, but other conditions and side effects of levodopa are also associated with NMS. NMS can develop at all stage of PD and rapid eyeball movement sleep behavior disorder (RBD), constipation, depression, and olfactory dysfunction are considered prodromal signs of PD. Many NMS related with motor deficits and cognitive dysfunction. Some NMS including olfactory dysfunction, RBD and abnormal stereopsis are associated with presence of other NMS of PD. In addition, several NMS can be helpful to differentiate between idiopathic PD and other parkinsonian disorders. Early recognition and management of NMS in PD patients is important for preserving quality of life.Review ArticleSun, 31 May 2015 00:00:01 +0100http://e-jmd.org/journal/view.php?number=134Effect of Rivastigmine on Behavioral and Psychiatric Symptoms of Parkinsonhttp://e-jmd.org/journal/view.php?number=135
<b>Objective</b>
A recent study showed that rivastigmine and memantin improved behavioral and psychiatric symptoms of dementia (BPSD) in Alzheimer’s dementia. Furthermore, according to recent guidelines presented by the Movement Disorder Society, rivastigmine is efficacious for the treatment of dementia in Parkinson’s disease (PD). We investigated the efficacy of rivastigmine for BPSD in patients with Parkinson’s disease dementia (PDD).<br/>
<b>Methods</b>
Twenty-three patients in whom cognitive impairment occurred at least one year after a diagnosis of PD participated in this open-label trial. Cognitive, psychiatric, and motor symptoms were assessed before and after 24 weeks of treatment with rivastigmine using unstructured clinical assessments and rating scales including the Unified Parkinson’s Disease Rating Scale, Mini-Mental State Examination (MMSE), and the Neuropsychiatric Inventory. <br/>
<b>Results</b>
Age (± standard deviation) was 74.7 ± 5.9 years, average duration of PD was 3.5 ± 3.7 years, Hoehn and Yahr scores were 2.2 ± 0.8, and baseline MMSE scores were 19.1 ± 4.2. Improvements in global mental symptoms and neuropsychiatric symptoms were significant; among them, hallucination, depression and appetite changes improved. Caregiver distress significantly decreased, including distress resulting from hallucinations, depression, apathy, and appetite changes. <br/>
<b>Conclusions </b>
Although controlled trials are required, the findings suggest that rivastigmine is useful for control of several neuropsychiatric symptoms and beneficial for caregiver distress in patients with PDD. Original ArticleSun, 31 May 2015 00:00:01 +0100http://e-jmd.org/journal/view.php?number=135Two Cases of Secondary Hemifacial Spasm: Pathophysiology and Managementhttp://e-jmd.org/journal/view.php?number=136
Sun, 31 May 2015 00:00:01 +0100http://e-jmd.org/journal/view.php?number=136Parkinsonism and Dementia Associated with Giant Virchow-Robin Spaceshttp://e-jmd.org/journal/view.php?number=137
Sun, 31 May 2015 00:00:01 +0100http://e-jmd.org/journal/view.php?number=137What Is Wrong with Balance in Parkinsonhttp://e-jmd.org/journal/view.php?number=138
Postural instability and resulting falls are major factors determining quality of life, morbidity, and mortality in individuals with Parkinson’s disease (PD). A better understanding of balance impairments would improve management of balance dysfunction and prevent falls in patients with PD. The effects of bradykinesia, rigidity, impaired proprioception, freezing of gait and attention on postural stability in patients with idiopathic PD have been well characterized in laboratory studies. The purpose of this review is to systematically summarize the types of balance impairments contributing to postural instability in people with PD. <BR><p align='center'><img src='/upload/thumbnails/jmd-main--3-109.jpg' border=0></p>Review ArticleThu, 10 Sep 2015 00:00:00 +0100http://e-jmd.org/journal/view.php?number=138The Current Status of Deep Brain Stimulation for the Treatment of Parkinson Disease in the ...http://e-jmd.org/journal/view.php?number=139
Parkinson disease (PD) is a common neurodegenerative disease with an increasing prevalence in Korea. Deep brain stimulation (DBS) is a safe and effective surgical treatment option for this disease. The aim of this review was to provide an update regarding current DBS practices with respect to the treatment of PD in the Republic of Korea. The first DBS in Korea was performed in 2000; approximately 2,000 patients have undergone DBS for a variety of neurological disorders, the majority of whom were patients with PD. Approximately 150 new patients with PD receive DBS annually, and more than 20 centers perform DBS. However, DBS remains underutilized for many reasons, and the clinical case burden at many institutions is below the level presumed adequate for qualified practice. With a rapidly aging population and an evolving socioeconomic environment, the need for surgical intervention for PD is likely to increase significantly in the future. Many issues such as finances, education, and quality assurance must be resolved to cope with this need. <BR><p align='center'><img src='/upload/thumbnails/jmd-main--3-115.jpg' border=0></p>Review ArticleThu, 10 Sep 2015 00:00:00 +0100http://e-jmd.org/journal/view.php?number=139Genetics of Progressive Supranuclear Palsyhttp://e-jmd.org/journal/view.php?number=140
Progressive supranuclear palsy (PSP) is a neurodegenerative syndrome that is clinically characterized by progressive postural instability, supranuclear gaze palsy, parkinsonism and cognitive decline. Pathologically, diagnosis of PSP is based on characteristic features, such as neurofibrillary tangles, neutrophil threads, tau-positive astrocytes and their processes in basal ganglia and brainstem, and the accumulation of 4 repeat tau protein. PSP is generally recognized as a sporadic disorder; however, understanding of genetic background of PSP has been expanding rapidly. Here we review relevant publications to outline the genetics of PSP. Although only small number of familial PSP cases have been reported, the recognition of familial PSP has been increasing. In some familial cases of clinically probable PSP, PSP pathologies were confirmed based on NINDS neuropathological diagnostic criteria. Several mutations in <i>MAPT</i>, the gene that causes a form of familial frontotemporal lobar degeneration with tauopathy, have been identified in both sporadic and familial PSP cases. The H1 haplotype of <i>MAPT</i> is a risk haplotype for PSP, and within H1, a sub-haplotype (H1c) is associated with PSP. A recent genome-wide association study on autopsyproven PSP revealed additional PSP risk alleles in <i>STX6</i> and <i>EIF2AK3</i>. Several heredodegenerative parkinsonian disorders are referred to as PSP-look-alikes because their clinical phenotype, but not their pathology, mimics PSP. Due to the fast development of genomics and bioinformatics, more genetic factors related to PSP are expected to be discovered. Undoubtedly, these studies will provide a better understanding of the pathogenesis of PSP and clues for developing therapeutic strategies. <BR><p align='center'><img src='/upload/thumbnails/jmd-main--3-122.jpg' border=0></p>Review ArticleThu, 10 Sep 2015 00:00:00 +0100http://e-jmd.org/journal/view.php?number=140Gender Differences in Age-Related Striatal Dopamine Depletion in Parkinsonhttp://e-jmd.org/journal/view.php?number=141
<b>Objective</b> Gender differences are a well-known clinical characteristic of Parkinson’s disease (PD). <i>In-vivo</i> imaging studies demonstrated that women have greater striatal dopamine transporter (DAT) activity than do men, both in the normal population and in PD patients. We hypothesize that women exhibit more rapid aging-related striatal DAT reduction than do men, as the potential neuroprotective effect of estrogen wanes with age.</br>
<b>Methods</b> This study included 307 <i>de novo</i> PD patients (152 men and 155 women) who underwent DAT scans for an initial diagnostic work-up. Gender differences in age-related DAT decline were assessed in striatal sub-regions using linear regression analysis.</br>
<b>Results</b> Female patients exhibited greater DAT activity compared with male patients in all striatal sub-regions. The linear regression analysis revealed that age-related DAT decline was greater in the anterior and posterior caudate, and the anterior putamen in women compared with men; we did not observe this difference in other sub-regions.</br>
<b>Conclusions</b> This study demonstrated the presence of gender differences in age-related DAT decline in striatal sub-regions, particularly in the antero-dorsal striatum, in patients with PD, presumably due to aging-related decrease in estrogen. Because this difference was not observed in the sensorimotor striatum, this finding also suggests that women may not have a greater capacity to tolerate PD pathogenesis than do men.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--3-130.jpg' border=0></p>Original ArticleThu, 10 Sep 2015 00:00:00 +0100http://e-jmd.org/journal/view.php?number=141Creutzfeldt-Jakob Disease in a Tertiary Care Hospital in Thailand: A Case Series and Review of ...http://e-jmd.org/journal/view.php?number=142
Creutzfeldt-Jakob Disease (CJD) is an incurable and inevitably fatal neurodegenerative disorder. Although CJD has a worldwide distribution, there are no official statistics on CJD in Thailand. A diagnosis of CJD is suspected when a patient develops rapidly progressive dementia with myoclonus. However, CJD may be mistaken for a variety of illnesses because its initial presentation frequently consists of non-specific symptoms. Here, we examined cases of sporadic CJD (sCJD) from Thammasat University Hospital (a tertiary care hospital in Thailand) between January 1, 2012 and December 31, 2014. Three cases of probable and possible sCJD were collected. All cases presented with rapidly progressive cognitive dysfunction accompanied by spontaneous myoclonus. Classical electroencehalography changes and typical abnormal MRI features were observed. All of the cases died within a period of 8 months. None of the patients underwent brain biopsy. Our findings raise questions about the prevalence of CJD in Thailand, which needs further study.Case ReportThu, 10 Sep 2015 00:00:00 +0100http://e-jmd.org/journal/view.php?number=142Dural Arteriovenous Fistula-Associated Reversible Parkinsonism with Presynaptic Dopaminergic Losshttp://e-jmd.org/journal/view.php?number=143
Thu, 10 Sep 2015 00:00:00 +0100http://e-jmd.org/journal/view.php?number=143Predominant Jaw Myoclonus from Cefepime Toxicity: A Case Report and a Review of the Literaturehttp://e-jmd.org/journal/view.php?number=144
Thu, 10 Sep 2015 00:00:00 +0100http://e-jmd.org/journal/view.php?number=144Retraction: Syndrome of Inappropriate Antidiuretic Hormone Secretion Associated with ...http://e-jmd.org/journal/view.php?number=145
Thu, 10 Sep 2015 00:00:00 +0100http://e-jmd.org/journal/view.php?number=145Cell Therapy Strategies vs. Paracrine Effect in Huntingtonhttp://e-jmd.org/journal/view.php?number=106
Huntington’s disease (HD) is a genetic neurodegenerative disorder. The most common symptom of HD is abnormal involuntary writhing movements, called chorea. Antipsychotics and tetrabenazine are used to alleviate the signs and symptoms of HD. Stem cells have been investigated for use in neurodegenerative disorders to develop cell therapy strategies. Recent evidence indicates that the beneficial effects of stem cell therapies are actually mediated by secretory molecules, as well as cell replacement. Although stem cell studies show that cell transplantation provides cellular improvement around lesions in in vivo models, further work is required to elucidate some issues before the clinical application of stem cells. These issues include the precise mechanism of action, delivery method, toxicity and safety. With a focus on HD, this review summarizes cell therapy strategies and the paracrine effect of stem cells.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-1-1.jpg' border=0></p>Review ArticleWed, 30 Apr 2014 00:00:01 +0100http://e-jmd.org/journal/view.php?number=106The Frequency and Severity of Gastrointestinal Symptoms in Patients with Early Parkinsonhttp://e-jmd.org/journal/view.php?number=107
<b>Objective:</b> Although gastrointestinal dysfunctions occur in the majority of patients with Parkinson’s disease (PD), they are often unrecognized because many patients remain relatively asymptomatic in the early stage. We investigated the frequency of gastrointestinal symptoms in patients with PD using newly developed gastrointestinal symptom questionnaires.<br> <b>Methods: </b>Early PD patients with a symptom duration not exceeding 3 years were included in this study. All PD patients were evaluated using a questionnaire, which consisted of three relevant domains: oropharyngoesophageal (10 items); gastric (3 items); and intestinal-anorectal (7 items). The frequency of symptoms was calculated as a proportion with an item score ≥ 2.<br> <b>Results: </b>Of the 54 patients enrolled, 48 patients (88.9%) responded that bowel symptoms developed before the onset of Parkinsonian motor symptoms, and four patients reported that the onset of two types of symptoms (i.e., bowel and neurological) occurred approximately simultaneously, with only months between them. The frequencies of gastrointestinal symptoms are as follows: speech disturbance (40.7%), drooling (24.1%), sense of getting stuck (31.5%), choking (27.8%), globus pharyngis (16.7%), repetitive deglutition (29.6%), pain during swallowing (5.6%), food regurgitation (3.7%), acid reflux (7.4%), nausea/ vomiting (11.1%), early satiety (16.7%), postprandial fullness (14.8%), epigastric soreness (9.3%), abdominal pain (3.7%), constipation (46.3%), excessive strain during defecation (33.3%), fecal incontinence (7.4%), tenesmus (20.4%), loose stool or diarrhea (3.7%), and difficulty in relaxing anal sphincter (11.1%). Two patients were scored at zero.<br> <b>Conclusions:</b> Our findings confirm that gastrointestinal dysfunction occurs in early PD in relatively high frequency.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-7-2.jpg' border=0></p>Original ArticleWed, 30 Apr 2014 00:00:01 +0100http://e-jmd.org/journal/view.php?number=107Correlation of Sleep Disturbance and Cognitive Impairment in Patients with Parkinsonhttp://e-jmd.org/journal/view.php?number=108
<b>Objective:</b> Cognitive impairment is a common nonmotor symptom of Parkinson’s disease (PD) and is associated with high mortality, caregiver distress, and nursing home placement. The risk factors for cognitive decline in PD patients include advanced age, longer disease duration, rapid eye movement sleep behavior disorder, hallucinations, excessive daytime sleepiness, and nontremor symptoms including bradykinesia, rigidity, postural instability, and gait disturbance. We conducted a cross-sectional study to determine which types of sleep disturbances are related to cognitive function in PD patients.<br> <b>Methods:</b> A total of 71 PD patients (29 males, mean age 66.46 ± 8.87 years) were recruited. All patients underwent the Mini- Mental State Examination (MMSE) and the Korean Version of the Montreal Cognitive Assessments (MoCA-K) to assess global cognitive function. Sleep disorders were evaluated with the Stanford Sleepiness Scale, Epworth Sleepiness Scale, Insomnia Severity Index (ISI), Pittsburg Sleep Quality Index, and Parkinson’s Disease Sleep Scale in Korea (PDSS).<br> <b>Results:</b> The ISI was correlated with the MMSE, and total PDSS scores were correlated with the MMSE and the MoCA-K. In each item of the PDSS, nocturnal restlessness, vivid dreams, hallucinations, and nocturnal motor symptoms were positively correlated with the MMSE, and nocturnal restlessness and vivid dreams were significantly related to the MoCA-K. Vivid dreams and nocturnal restlessness are considered the most powerful correlation factors with global cognitive function, because they commonly had significant correlation to cognition assessed with both the MMSE and the MoCA-K.<br><br> <b>Conclusions:</b> We found a correlation between global cognitive function and sleep disturbances, including vivid dreams and nocturnal restlessness, in PD patients.Original ArticleWed, 30 Apr 2014 00:00:01 +0100http://e-jmd.org/journal/view.php?number=108Stiff-Person Syndrome: Case Serieshttp://e-jmd.org/journal/view.php?number=109
Stiff-person syndrome (SPS) is a rare disorder, characterized by progressive fluctuating muscular rigidity and spasms. Glutamic acid decarboxylase (GAD) antibody is primarily involved in the pathogenesis of SPS and SPS is strongly associated with other autoimmune disease. Here we report three cases of patients with classical SPS finally confirmed by high serum level of GAD antibodies. All of our patients respond favorably to gamma amino butyric acid-enhancing drugs and immunotherapies.Case ReportWed, 30 Apr 2014 00:00:01 +0100http://e-jmd.org/journal/view.php?number=109Giant Middle Fossa Epidermoid Presenting as Holmeshttp://e-jmd.org/journal/view.php?number=110
Intracranial dermoids may gradually reach an enormous size before the onset of symptoms. Common clinical presentations of intracranial epidermoid include headache and seizures. We present a case of a 35-year female patient with giant middle fossa epidermoid that presented with Holmes’ tremor syndrome, and we review the relevant literature. To the best of our knowledge, such a presentation has not previously been described in the literature.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-22-5.jpg' border=0></p>Case ReportWed, 30 Apr 2014 00:00:01 +0100http://e-jmd.org/journal/view.php?number=110Rhabdomyolysis Related to Dyskinesia in Parkinsonhttp://e-jmd.org/journal/view.php?number=111
Rhabdomyolysis is a life threatening syndrome. It accounts for an estimated 8% to 15% of cases of acute renal failure and is associated with a mortality rate of 5%. In movement disorders, various causes of rhabdomyolysis have been reported including status dystonicus, myoclonus, generalized chorea and parkinsonism-hyperprexia syndrome in Parkinson’s disease (PD). Levodopa-induced dyskinesia leading to rhabdomyolysis is a very rare phenomenon in PD. We report a case of 76 years old PD patient with dyskinesia and rhabdomyolysis.Case ReportWed, 30 Apr 2014 00:00:01 +0100http://e-jmd.org/journal/view.php?number=111Suppression of Myoclonus in Corticobasal Degeneration by Levetiracetamhttp://e-jmd.org/journal/view.php?number=112
Myoclonus in corticobasal degeneration (CBD) has often been associated with severe and difficult to treat disabilities. Levetiracetam is a new antiepileptic agent with antimyoclonic effects. Herein, we present a 72-year-old woman with clinically probable CBD and with spontaneous rhythmic myoclonus in the right foot, which was markedly ameliorated through treatment with levetiracetam. The effect of levetiracetam was associated with the decreased amplitude of enlarged cortical somatosensory evoked potentials. This result suggests that the antimyoclonic effect of levetiracetam might be mediated through the suppression of increased cortical excitability.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-28-7.jpg' border=0></p>Case ReportWed, 30 Apr 2014 00:00:01 +0100http://e-jmd.org/journal/view.php?number=112Electrophysiological Evaluation of Oropharyngeal Dysphagia in Parkinsonhttp://e-jmd.org/journal/view.php?number=114
Parkinson’s disease (PD) is a chronic, neurodegenerative movement disorder that typically affects elderly patients. Swallowing disorders are highly prevalent in PD and can have grave consequences, including pneumonia, malnutrition, dehydration and mortality. Neurogenic dysphagia in PD can manifest with both overt clinical symptoms or silent dysphagia. Regardless, early diagnosis and objective follow- up of dysphagia in PD is crucial for timely and appropriate care for these patients. In this review, we provide a comprehensive summary of the electrophysiological methods that can be used to objectively evaluate dysphagia in PD. We discuss the electrophysiological abnormalities that can be observed in PD, their clinical correlates and the pathophysiology underlying these findings.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--2-31.jpg' border=0></p>Review ArticleThu, 30 Oct 2014 00:00:01 +0100http://e-jmd.org/journal/view.php?number=114Complementary & Alternative Management of Parkinsonhttp://e-jmd.org/journal/view.php?number=115
The prevalence of Parkinson’s disease (PD) appears to be lower in Asia compared to the Western world. It is unclear if this is related to the ubiquitous use of traditional medicine in Eastern healthcare, but the use of complementary and alternative medicine (CAM) modalities in countries like Korea may be as high as 76%. Among patients with PD, herbal medicines, health supplement foods, and acupuncture are interventions which are increasingly used throughout the world. Countries like Korea, China, India, and Japan have long embraced and incorporated traditional medicine into modern management of conditions such as PD, but research into various CAM modalities remains in its infancy limiting evidence-based recommendations for many treatments. We reviewed the literature on CAM treatments for PD, focusing on mind-body interventions and natural products. Based on evidence limited to randomized-controlled trials we found that mind-body interventions are generally effective forms of physical activity that are likely to foster good adherence and may reduce disability associated with PD. Based on the current data, modalities like Tai Chi and dance are safe and beneficial in PD, but better studies are needed to assess the effects of other frequently used modalities such as yoga and acupuncture. Furthermore, despite centuries of experience using medicinal herbs and plants in Eastern countries, and despite substantial preclinical data on the beneficial effects of nutritional antioxidants as neuroprotective agents in PD, there is insufficient clinical evidence that any vitamin, food additive, or supplement, can improve motor function or delay disease progression in PD.Review ArticleThu, 30 Oct 2014 00:00:01 +0100http://e-jmd.org/journal/view.php?number=115Maladaptive Reward-Learning and Impulse Control Disorders in Patients with Parkinsonhttp://e-jmd.org/journal/view.php?number=116
Impulse control disorders (ICD) in Parkinson’s disease (PD) are a disabling non-motor symptom with frequencies of 13?35% among patients receiving dopamine replacement therapy. ICD in PD is strongly associated with dopaminergic drug use, especially non-ergot dopamine agonists (DA). However, individual susceptibility and disease-related neural changes are also important contributors to the development of ICD. Discrepancies between nigrostriatal and mesolimbic dopaminergic degeneration and non-physiological administration of dopaminergic drugs may induce abnormal ’hyperstimulation’ of the mesolimbic system, which alters reward-learning behaviors in PD patients. In addition, DA can make patients more impulsive during decision-making and seek risk-taking behaviors. DA intake is also related to the biased representation of rewards. Ultimately, loss of negative feedback control due to dysfunctional frontostriatal connections is necessary for the establishment of ICD in PD. The subsequent behavioral and neural changes are affected by PD treatment and disease progression; thus, proper treatment guidelines for physicians are needed to prevent the development of ICD. Future studies aimed at producing novel therapeutics to control the risk factors for ICD or treat ICD behaviors in PD are warranted. This review summarizes recent advances from epidemiological and pathophysiological studies on ICD in PD. Management principles and limitations of current therapeutics are briefly discussed.Review ArticleThu, 30 Oct 2014 00:00:00 +0100http://e-jmd.org/journal/view.php?number=116Dopamine Does Not Appear to Affect Mental Rotation in Parkinsonhttp://e-jmd.org/journal/view.php?number=117
<b>Objective</b> Patients with Parkinson’s disease (PD) often have deficits with mental rotation (MR). The neuropathological factors underlying these deficits, however, remain to be elucidated. One hypothesis suggests that dopamine depletion in nigro-striatal systems adversely influences MR. Another hypothesis suggests that deterioration of cortical (fronto-temporo-parietal basal ganglia) networks that mediate this function are responsible for this deficit. The goal of this study was to test the dopamine hypothesis by determining if dopamine abstinence negatively influences MR performance.<br>
<b>Methods</b> Thirty three non-demented right-handed individuals with PD were assess for their ability to perform a pencil and paper MR test while “on” and “off” dopaminergic medications. Dopamine abstinence followed the typical overnight withdrawal procedures.<br>
<b>Results</b> No differences in mental rotation abilities were found between “on” and “off” dopaminergic medications.<br>
<b>Conclusions</b> These results suggest that other neuropathological factors, such as cortical-basal ganglia neurodegeneration, or dysfunction of other neurotransmitters systems, might account for these cognitive deficits and future research will have to test these alternative hypotheses.Original ArticleThu, 30 Oct 2014 00:00:00 +0100http://e-jmd.org/journal/view.php?number=117Nationwide Survey of Patient Knowledge and Attitudes towards Human Experimentation Using Stem ...http://e-jmd.org/journal/view.php?number=118
<b>Objective</b> Stem cell treatment is a well-recognized experimental treatment among patients with Parkinson’s disease (PD), for which there are high expectations of a positive impact. Acupuncture with bee venom is one of the most popular complementary and alternative treatments for PD. Patient knowledge and attitudes towards these experimental treatments are unknown.<br>
<b>Methods</b> Using a 12-item questionnaire, a nationwide survey was conducted of 963 PD patients and 267 caregivers in 44 Korean Movement Disorders Society member hospitals from April 2013 to June 2013. The survey was performed by trained interviewers using conventional methods.<br>
<b>Results</b> Regarding questions on experimental treatments using stem cells or bee venom acupuncture, 5.1?17.7% of PD patients answered questions on safety, efficacy, and evidence-based practice incorrectly; however, more than half responded that they did not know the correct answer. Although safety and efficacy have not been established, 55.5% of PD patients responded that they were willing to receive stem cell treatment. With regard to participating in experimental treatments, there was a strong correlation between stem cell treatment and bee venom acupuncture (<i>p</i> < 0.0001, odds ratio = 5.226, 95% confidence interval 3.919?6.969). Younger age, higher education, and a longer duration of PD were all associated with a correct understanding of experimental treatments.<br>
<b>Conclusions</b> Our data suggest that relatively few PD patients correctly understand the safety and efficacy of experimental treatments and that PD patients are greatly interested in new treatments. We hope that our data will be used to educate or to plan educational programs for PD patients and caregivers.<BR><p align='center'><img src='/upload/thumbnails/jmd-main--2-84.jpg' border=0></p>Original ArticleThu, 30 Oct 2014 00:00:00 +0100http://e-jmd.org/journal/view.php?number=118Globus Pallidus Interna Deep Brain Stimulation in a Patient with Medically Intractable Meige ...http://e-jmd.org/journal/view.php?number=119
Medical therapies in patients with Meige syndrome, including botulinum toxin injection, have been limited because of incomplete response or adverse side effects. We evaluated a patient with Meige syndrome who was successfully treated with deep brain stimulation (DBS) in the globus pallidus interna (GPi). This case report and other previous reports suggest that bilateral GPi DBS may be an effective treatment for medically refractory Meige syndrome, without significant adverse effects.Case ReportThu, 30 Oct 2014 00:00:01 +0100http://e-jmd.org/journal/view.php?number=119Treatment of Gait Ignition Failure with Ropinirolehttp://e-jmd.org/journal/view.php?number=120
Gait ignition failure (GIF) is a syndrome characterized by hesitation or inability to initiate gait from a static position. It may occur in a variety of conditions, including normal pressure hydrocephalus, subcortical vascular disease, parkinsonian syndromes and a variety of focal lesions. Previous information on the treatment of GIF has been primarily anecdotal, but there have been a few reports of response to dopamine agonists. We report a 63-year-old man with anoxic encephalopathy who developed GIF nine years after the initial anoxic insult. The patient’s GIF responded robustly, albeit transiently, to ropinirole. MRI was unrevealing, but a positron emission tomography scan showed hypometabolism in the deep frontal ACA/MCA watershed area; this may have disconnected the basal ganglia from the motor cortex and/or interrupted dopaminergic mesocortical transmission. Our understanding of the pathophysiology and the treatment of GIF remains limited, but there may be at least a limited therapeutic role for dopamine agonists.Case ReportThu, 30 Oct 2014 00:00:01 +0100http://e-jmd.org/journal/view.php?number=120Normal Cerebellar Metabolism in a Patient with Superficial Siderosishttp://e-jmd.org/journal/view.php?number=121
Thu, 30 Oct 2014 00:00:01 +0100http://e-jmd.org/journal/view.php?number=121Orthostatic Hypotension and Cognitive Impairment in De Novo Patients with Parkinsonhttp://e-jmd.org/journal/view.php?number=122
Thu, 30 Oct 2014 00:00:01 +0100http://e-jmd.org/journal/view.php?number=122New Perspective on Parkinsonism in Frontotemporal Lobar Degenerationhttp://e-jmd.org/journal/view.php?number=4
<p>Frontotemporal dementia (FTD) is the second most common type of presenile dementia. Three clinical prototypes have been defined; behavioral variant FTD, semantic dementia, and progressive nonfluent aphasia. Progressive supranuclear palsy, corticobasal degeneration, and motor neuron disease may possess clinical and pathological characteristics that overlap with FTD, and it is possible that they may all belong to the same clinicopathological spectrum. Frontotemporal lobar degeneration (FTLD) is a clinicopathological syndrome that encompasses a heterogenous group of neurodegenerative disorders. Owing to the advancement in the field of molecular genetics, diagnostic imaging, and pathology, FTLD has been the focus of great interest. Nevertheless, parkinsonism in FTLD has received relatively less attention. Parkinsonism is found in approximately 20?30% of patients in FTLD. Furthermore, parkinsonism can be seen in all FTLD subtypes, and some patients with familial and sporadic FTLD can present with prominent parkinsonism. Therefore, there is a need to understand parkinsonism in FTLD in order to obtain a better understanding of the disease. With regard to the clinical characteristics, the akinetic rigid type of parkinsonism has predominantly been described. Parkinsonism is frequently observed in familial FTD, more specifically, in FTD with parkinsonism linked to chromosome 17q (FTDP-17). The genes associated with parkinsonism are microtubule associated protein tau (<italic>MAPT</italic>), progranulin (<italic>GRN</italic> or <italic>PGRN</italic>), and chromosome 9 open reading frame 72 (<italic>C9ORF72</italic>) repeat expansion. The neural substrate of parkinsonism remains to be unveiled. Dopamine transporter (DAT) imaging revealed decreased uptake of DAT, and imaging findings indicated atrophic changes of the basal ganglia. Parkinsonism can be an important feature in FTLD and, therefore, increased attention is needed on the subject.</p><BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-1-1.gif' border=0></p>Review ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=4Ventricular Bigeminy after Subcutaneous Administration of Apomorphine in a Patient with ...http://e-jmd.org/journal/view.php?number=3
<p>Apomorphine is a well established treatment for the management of sudden, unexpected and refractory levodopa-induced “off” states in fluctuating Parkinson’s disease either as bolus injections or as continuous infusions. Incidents of atrial fibrillation associated with the administration of the drug have been reported in the past but no incidents of ventricular arrhythmias. We report a case of ventricular bigeminy recorded in a female patient after the administration of apomorphine.</p><BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-9-1.gif' border=0></p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=3A Case of Isolated Middle Cerebral Artery Stenosis with Hemichorea and Moyamoya Pattern ...http://e-jmd.org/journal/view.php?number=2
<p>Isolated middle cerebral artery (MCA) stenosis in young patients with no other medical condition may be a unique pathologic entity with a benign long-term course. Generally, moyamoya disease shows a progression of stenosis from internal cerebral artery (ICA) to other intracranial vessel. A 26-year-old woman was admitted for choreic movements of the right arm and leg. Brain magnetic resonance imaging showed no stroke. Conventional angiography revealed 48% stenosis of the left M1 without ICA stenosis. Single photon emission computed tomography revealed perfusion asymmetry after acetazolamide injection, suggesting decreased uptake in the left basal ganglia and the cerebral cortex. Her hemichorea was mildly decreased with risperidone. One year later, follow-up angiography showed complete occlusion of the left M1 with neovascularization suggestive of moyamoya disease. The patient underwent bypass surgery and her hemichorea disappeared. This may be an atypical presentation of moyamoya disease. The bypass surgery was an effective measure for restoring the vascular insufficiency and, resultantly, controlling her hemichorea.</p><BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-13-1.gif' border=0></p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=2Acute Hemichorea as an Unusual Presentation of Internal Carotid Artery Stenosishttp://e-jmd.org/journal/view.php?number=5
<p>Involuntary movement associated with deep watershed ischemic lesions has been rarely reported. A 67-year-old woman presented with acute hemichorea on the left side. Magnetic resonance imaging showed acute infarcts in the anterior border zone. On perfusion studies, impaired cerebral blood flow was observed on the subcortical region sparing the basal ganglia. Cerebral angiogram confirmed severe stenosis in the right internal carotid artery. Her hemichorea gradually improved along with normalization of perfusion after carotid artery stenting with angioplasty. We suggest that impaired cerebral blood flow in critical watershed territories may be an important contributing factor in hemichorea associated with carotid occlusive disease.</p><BR><p align='center'><img src='/upload/thumbnails/jmd-main--1-17-1.gif' border=0></p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=5Thrombocytopenia Associated with Levodopa Treatmenthttp://e-jmd.org/journal/view.php?number=1
<p>There were few cases of thrombocytopenia associated with levodopa. Herein, we report a patient with Parkinson’s disease, who suffered thrombocytopenia related to long-term use of levodopa.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=1Orthostatic and Supine Blood Pressures Are Associated with White Matter Hyperintensities in ...http://e-jmd.org/journal/view.php?number=19
<sec>
<title>Background and Purpose:</title>
<p>Several reports on the elderly population have suggested that orthostatic hypotension is associated with white matter hyperintensities (WMH); however, little information is available on patients with Parkinson’s disease (PD).</p></sec>
<sec>
<title>Methods:</title>
<p>We analyzed the association blood pressure profiles during tilt table testing with WMH scores in 117 patients with PD. WMH were rated using the semiquantitative visual rating system proposed by Scheltens et al.</p></sec>
<sec>
<title>Results:</title>
<p>The presence of orthostatic hypotension was associated with increasing tendency of WMH score and the blood pressure changes during tilting and supine blood pressure were positively correlated with increasing WMH score.</p></sec>
<sec>
<title>Conclusions:</title>
<p>This finding indicates that hemodynamic changes associated with orthostatic hypotension may be associated with white matter changes in patients with PD.</p></sec><BR><p align='center'><img src='/upload/thumbnails/jmd-main--2-23-2.gif' border=0></p>Original ArticleWed, 30 Oct 2013 00:00:01 +0100http://e-jmd.org/journal/view.php?number=19Growth Hormone Deteriorates the Functional Outcome in an Experimental Model of Huntingtonhttp://e-jmd.org/journal/view.php?number=20
<sec>
<title>Background and Purpose:</title>
<p>Growth hormone (GH) has been frequently used to control the aging process in healthy individuals, probably due to its slowing effect on senescence-associated degeneration. Mitochondrial dysfunction is related to the aging process, and one of the chemical models of Huntington’s disease is that it can be induced by mitochondrial toxin. To investigate the potential application of GH to modify the progression of Huntington’s disease (HD), we examined whether GH can protect the functional deterioration by striatal damage induced by 3-nitropropionic acid (3NP).</p></sec>
<sec>
<title>Methods:</title>
<p>3NP (63 mg/kg/day) was delivered to Lewis rats by osmotic pumps for five consecutive days, and the rats received intraperitoneal administration of GH or vehicle (saline) throughout the experiment. Neurological deficits and body weight were monitored. A 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) test was performed to further determine the mitochondrial activity in cultured N18TG2 neuroblastoma cells <italic>in vitro</italic>.</p></sec>
<sec>
<title>Results:</title>
<p>3NP-treated rats showed progressive neurologic deficits with striatal damage. Application of GH accelerated behavioral deterioration, particularly between day 3 and day 5, resulting in reduced survival outcome. The body weights of rats given 3NP were decreased, but GH did not affect such decrease compared to the non-treated control group. The effect of GH on cultured neuronal cells was a decrease in the MTT absorbance, suggesting a lower number of cells in a dose dependent pattern.</p></sec>
<sec>
<title>Conclusions:</title>
<p>Those results suggest that application of GH to a 3NP-induced experimental model of HD deteriorates the progress of functional deficits, possibly disturbing mitochondrial activities.</p></sec><BR><p align='center'><img src='/upload/thumbnails/jmd-main--2-28-2.gif' border=0></p>Original ArticleWed, 30 Oct 2013 00:00:01 +0100http://e-jmd.org/journal/view.php?number=20Amantadine Induced Corneal Edema in a Patient with Primary Progressive Freezing of Gaithttp://e-jmd.org/journal/view.php?number=21
<p>Amantadine is commonly used for Parkinsonism. However amantadine can induce adverse corneal reaction. Here we report a patient with primary progressive freezing of gait who had severe corneal edema associated with amantadine, which was reversible after discontinuation of the amantadine. This report alerts neurologists for this reversible but potentially critical corneal edema in patients with Parkinsonism who are receiving amantadine.</p><BR><p align='center'><img src='/upload/thumbnails/jmd-main--2-34-2.gif' border=0></p>Case ReportWed, 30 Oct 2013 00:00:01 +0100http://e-jmd.org/journal/view.php?number=21Hot Cross Bun Sign Following Bilateral Pontine Infarction: A Case Reporthttp://e-jmd.org/journal/view.php?number=22
<p>The hot cross bun sign is characterized by cruciform T2 signal hyperintensity in the pons and has been reported to be a specific but not pathognomic for multiple system atrophy. It reflects degeneration of pontine neurons and transverse pontocerebellar fibers, regardless of the underlying pathogenic process. Here, we report a case of hot cross bun sign following bilateral pontine infarction due to Wallerian degeneration of the pontocerebellar fibers.</p><BR><p align='center'><img src='/upload/thumbnails/jmd-main--2-37-2.gif' border=0></p>Case ReportWed, 30 Oct 2013 00:00:01 +0100http://e-jmd.org/journal/view.php?number=22Preliminary Study of Intravenous Amantadine Treatment for Ataxia Management in Patients with ...http://e-jmd.org/journal/view.php?number=10
<sec>
<title>Background and Purpose:</title>
<p>Multiple system atrophy with predominant cerebellar ataxia is a disabling neurologic disease. However, effective management has not yet been established. We conducted a short-term, open-label preliminary study to assess the benefits of intravenous amantadine treatment in patients with probable multiple system atrophy with predominant cerebellar ataxia.</p></sec>
<sec>
<title>Methods:</title>
<p>Twenty patients (10 male, 10 female) with probable multiple system atrophy with predominant cerebellar ataxia received 400 mg of amantadine by intravenous per day for 5 days. Ataxia severity was evaluated by the International Cooperative Ataxia Rating Scale before and after intravenous amantadine therapy and all subjects reported subjective improvement after intravenous amantadine treatment using a patient global impression scale. We analyzed the total and subscale scores by the ataxia scale and patient global impression scale.</p></sec>
<sec>
<title>Results:</title>
<p>The mean age was 57.4 years (range: 47?72) and the mean disease duration was 30.8 months (range: 11?79). The ataxia severity significantly decreased after intravenous amantadine therapy from 42.5 to 37.3 (<italic>p</italic> < 0.001). The mean patient global impression scale for improvement was 2.9 and there were no side effects of intravenous amantadine treatment observed. When we assessed responders, the duration of intravenous amantadine effect was more than 1 month in 4 subjects of 7 responders.</p></sec>
<sec>
<title>Conclusions:</title>
<p>Our findings suggest that intravenous amantadine treatment can be a safe management option in cerebellar ataxia, although the mechanism is unclear. Thus, further double-blind, long-term studies with a larger sample size are needed.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=10Reorganization of the Human Somatosensory Cortex in Hand Dystoniahttp://e-jmd.org/journal/view.php?number=9
<sec>
<title>Background and Purpose:</title>
<p>Abnormalities of finger representations in the somatosensory cortex have been identified in patients with focal hand dystonia. Measuring blood flow with positron emission tomography (PET) can be use to demonstrate functional localization of receptive fields.</p></sec>
<sec>
<title>Methods:</title>
<p>A vibratory stimulus was applied to the right thumb and little finger of six healthy volunteers and six patients with focal hand dystonia to map their receptive fields using H<sub>2</sub><sup>15</sup>O PET.</p></sec>
<sec>
<title>Results:</title>
<p>The cortical finger representations in the primary somatosensory cortex were closer to each other in patients than in normal subjects. No abnormalities were found in secondary somatosensory cortex, but the somatotopy there is less well distinguished.</p></sec>
<sec>
<title>Conclusions:</title>
<p>These data confirm prior electrophysiological and functional neuroimaging observations showing abnormalities of finger representations in somatosensory cortex of patients with focal hand dystonia.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=9Botulinum Toxin Clinic-Based Epidemiologic Survey of Adults with Primary Dystonia in East Chinahttp://e-jmd.org/journal/view.php?number=11
<sec>
<title>Background and Purpose:</title>
<p>Primary focal or segmental dystonia is a rare clinical condition. The clinical features of dystonia have not been evaluated in China. We performed a study to investigate the epidemiology of primary dystonia and its clinical variants in an adult population.</p></sec>
<sec>
<title>Methods:</title>
<p>A Botulinum Toxin Clinic-based study was conducted in the period 18 May through 8 October 2010 in East China. We identified 523 dystonia patients from the Movement disorders and Botulinum Toxin clinic Cases.</p></sec>
<sec>
<title>Results:</title>
<p>The most common focal dystonia were blepharospasm (59%), cervical dystonia (35%), limb dystonia (3%), oromandibular dystonia (2%) and laryngeal dystonia (1%). Males with primary dystonia were noted to have earlier age of onset. A female predominance was noted for most of the primary dystonias with a male to female ratio (M : F) ranging from 1 : 1.48 to 1 : 3.</p></sec>
<sec>
<title>Conclusions:</title>
<p>The epidemiological features of dystonia in East China we collected were similar to the report in Japan which contrasts partly with that reported in Europe.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=11Hypomania Induced by Subthalamic Nucleus Stimulation in a Parkinsonhttp://e-jmd.org/journal/view.php?number=13
<p>The aim of this report was to describe a case of hypomania after deep brain stimulation of the subthalamic nucleus (STN DBS) in a Parkinson’s disease (PD) patient. 59-year-old man with a 15-year history of PD underwent bilateral implantation of electrodes to the STN. Immediately after surgery, his motor function was markedly improved and his mood was elevated to hypomania. Fusion images of the preoperative MRI and postoperative CT scan showed that the electrodes were located in the medial portion of the STN. In this case, behavioral mood change was related to the deep brain stimulation. Moreover, the anatomical location and the functional alteration of the STN after the DBS surgery might be related to the regulatory system of the associative and limbic cortico-subcortical circuits.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=13Apparently Ipsilateral Parkinsonism in a Patient with Chronic Subdural Hematomahttp://e-jmd.org/journal/view.php?number=12
<p>Symptomatic parkinsonism secondary to ipsilateral lesion is rarely reported. Although the contribution of the contralateral lesions was assumed in some cases, the pathomechanism remains undetermined. Herein we report a patient with a subdural hematoma, who developed parkinsonism in the ipsilateral hemibody. Structural and functional imaging suggests the contralateral dopaminergic dysfunction as the major culprit of apparently ipsilateral parkinsonism.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=12An Elderly Case of Acute Cerebellitis after Alleged Vaccinationhttp://e-jmd.org/journal/view.php?number=7
<p>Acute cerebellitis (AC) is a benign and self-limiting inflammatory disease. It typically occurs as a primary infectious or postinfectious disorder. Although AC mostly presents in early childhood, it can appear in adult. A 66-year-old man admitted to our hospital because of limb and gait ataxia. Three weeks ago, he took an influenza vaccination. There was no abnormality on brain MRI with contrast enhancement, but Technetium-99m hexamethyl propylene amine oxime-single photon emission computed tomography (HMPAO-SPECT) showed markedly cerebellar asymmetry, suggesting hypoperfusion in the right cerebellum. Influenza vaccination can cause AC in the elderly and brain HMPAO-SPECT imaging is more useful than MRI in identifying patients with AC.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=7Psychogenic Balance Disorders: Is It a New Entity of Psychogenic Movement Disorders?http://e-jmd.org/journal/view.php?number=6
<p>The various reported psychogenic dyskinesias include tremor, dystonia, myoclonus, gait disorder, Parkinsonism, tics, and chorea. It is not easy to diagnose psychogenic movement disorders, especially in patients with underlying organic disease. We describe three patients with balance and/or posture abnormalities that occur when they stand up, start to move, or halt from walking, although their gaits are normal. One had an underlying unilateral frontal lobe lesion. All patients improved dramatically after receiving a placebo-injection or medication. These abnormal features differ from the previously reported features of astasia without abasia and of psychogenic gait disorders, including recumbent gait. We describe and discuss the patients’ unique clinical characteristics.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=6Levodopa-Induced Facial Dystonia in a Case of Progressive Supranuclear Palsyhttp://e-jmd.org/journal/view.php?number=8
<p>Progressive supranuclear palsy (PSP) is frequently misdiagnosed as other Parkinsonism because of clinical heterogeneity of PSP. We present here a case of a 67-year-old male patient with frontotemporal dementia-like cognitive impairment including language difficulties and abnormal behaviors. He showed severe facial dystonia after the levodopa treatment. Herein, we describe an unusual case of a patient presenting with PSP which, we believe could contribute to our knowledge about atypical leveodopa-induced facial dystonia in PSP.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=8Genetics of Parkinsonhttp://e-jmd.org/journal/view.php?number=16
<p>Discovering genes following Medelian inheritance, such as autosomal dominant-synuclein and leucine-rich repeat kinase 2 gene, or autosomal recessive Parkin, P-TEN-induced putative kinase 1 gene and Daisuke-Junko 1 gene, has provided great insights into the pathogenesis of Parkinson’s disease (PD). Genes found to be associated with PD through investigating genetic polymorphisms or via the whole genome association studies suggest that such genes could also contribute to an increased risk of PD in the general population. Some environmental factors have been found to be associated with genetic factors in at-risk patients, further implicating the role of gene-environment interactions in sporadic PD. There may be confusion for clinicians facing rapid progresses of genetic understanding in PD. After a brief review of PD genetics, we will discuss the insight of new genetic discoveries to clinicians, the implications of ethnic differences in PD genetics and the role of genetic testing for general clinicians managing PD patients.</p>Review ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=16Clinical Features and Disability Milestones in Multiple System Atrophy and Progressive ...http://e-jmd.org/journal/view.php?number=14
<p>Multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) are an adult-onset progressive neurodegenerative disorder that are known to display diverse clinical features and disease progression. We aim to characterize the clinical features and disease progression in patients with MSA and PSP by using a number of relevant disability milestones in Koreans. Forty-one patients with MSA and 14 patients with PSP had been enrolled. The mean age at onset of MSA-C, MSA-P and PSP was 56.7 ± 7.8, 62.5 ± 8.0, 68.9 ± 6.1 years respectively. The most commonly reported symptom at disease onset is disequilibrium/dizziness in MSA-C, tremor in MSA-P and frequent falling in PSP. The mean duration of reaching milestones after disease onset in MSA-C were as followings: 20.8 (urinary incontinence), 22.9 (frequent falling), 27.8 (wheelchair bound), 31.8 (dysarthria) and 35.8 months (diagnosis). The mean duration of reaching milestones after disease onset were 22.0 (urinary incontinence), 32.6 (frequent falling and diagnosis), 41.2 (dysarthria), 61.4 months (wheelchair bound) in MSA-P and 16.8 (dysarthria), 21.6 (diagnosis), 21.7 (frequent falling), 24.0 months (wheel chair bound) in PSP. In the case of MSA, dizziness may occur for the first time. Thus, when the patient complains of non-specific dizziness, a follow-up examination to distinguish it from MSA can be helpful. There was a trend for patients with MSA-C to reach more disability milestones than in MSA-P and PSP before diagnosis. It may explain why patients with MSA-C are required more detail history taking and neurologic examination at an earlier stage.</p>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=14A Case of Multiple System Atrophy-Cerebellar Type Preceded by Dementiahttp://e-jmd.org/journal/view.php?number=18
<p>Multiple system atrophy (MSA) is a sporadic, adult-onset disease characterized by progressive degeneration of nervous systems including cerebellar, pyramidal, extrapyramidal, and autonomic system. Although a few recent studies reported that cognitive impairments could occur in patients with MSA, prominent dementia with progressive decline is not a typical clinical manifestation of MSA. In particular, dementia with MSA-cerebellar type is very rare. We have experienced a patient with 2-year history of severe cognitive impairment, who was finally diagnosed as MSA-cerebellar type.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=18Attention in Parkinsonhttp://e-jmd.org/journal/view.php?number=17
<p>The various reported psychogenic movement disorders (PMDs) include tremor, dystonia, myoclonus, gait disorder, Parkinsonism, tics, and chorea. Although it is not easy to diagnose PMDs, several features such as distractibility, entrainment, suggestion and placebo trial are quite helpful to diagnose. Especially, distractibility or suggestion is a good tool to do in outpatient clinic easily. We describe a patient with parkinsonian features which were improved by internal suggestion to focusing attention. Initially, we suspected her diagnosis as PMDs; however she was confirmed with organic Parkinson’s disease later.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=17A Case of Intractable Psychogenic Essential Palatal Tremorhttp://e-jmd.org/journal/view.php?number=15
<p>Essential palatal tremor (EPT) is a rare disorder which shows rhythmic involuntary movement of the muscles of soft palate, especially tensor veli palatini muscle. EPT is classified by two subtypes, which is primary and secondary EPT. Secondary EPT includes psychogenic type. We describe a case of intractable psychogenic EPT.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=15Rationale for Therapeutic Silencing of Alpha-Synuclein in Parkinsonhttp://e-jmd.org/journal/view.php?number=36
<p>The purpose of this paper is to provide the rationale for therapeutic silencing of the alpha-synuclein gene (SNCA) in Parkinson’s disease (PD). The paper reviews the public health significance of PD; the causal links between rare SNCA variants and familial PD; the association of common SNCA variants and PD susceptibility; the association of SNCA variants also with age at onset and motor and cognitive outcomes in PD; therapeutic strategies targeting SNCA in PD; and preliminary findings and considerations on small interfering RNA-based therapies and PD.</p>Review ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=36Electrophysiological Evidences of Organization of Cortical Motor Information in the Basal Gangliahttp://e-jmd.org/journal/view.php?number=34
<p>During the last two decades, the many developments in the treatment of movement disorders such as Parkinson disease and dystonia have enhanced our understanding on organization of the basal ganglia, and this knowledge has led to other advances in the field. According to many electrophysiological and anatomical findings, it is considered that motor information from different cortical areas is processed through several cortico-basal ganglia loops principally in a parallel fashion and somatotopy from each cortical area is also well preserved in each loop. Moreover, recent studies suggest that not only the parallel processing but also some convergence of information occur through the basal ganglia. Information from cortical areas whose functions are close to each other tends to converge in the basal ganglia. The cortico-basal ganglia loops should be comprehended more as a network rather than as separated subdivisions. However, the functions of this convergence still remain unknown. It is important even for clinical doctors to be well informed about this kind of current knowledge because some symptoms of movement disorders may be explained by disorganization of the information network in the basal ganglia.</p>Review ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=34One View of the Current State of Understanding in Basal Ganglia Pathophysiology and What is ...http://e-jmd.org/journal/view.php?number=39
<p>Deep Brain Stimulation (DBS), arguably, is the most dramatic development in movement disorders since the levodopa for Parkinson’s disease. Yet, its mechanisms of action of DBS are unknown. However, DBS related research already has demonstrated that current concepts of basal ganglia pathophysiology are wrong. Specifically, the notion that over-activity of the globus pallidus interna causes parkinsonism, the basis for the most current theories, is no longer tenable. The development of any new theory will be aided by an understanding of how current theories are wrong and why have these flawed theories persist. Many of the problems of current theories are more matters of inference, assumptions, presumptions, and the accepted level of ambiguity than they are of fact. Consequently, it is imperative that these issues be addressed. Just as the inappropriate use of a tool or method is grounds for criticism, methods of reasoning are tools that can be used inappropriately and should be subject to discussion just as misuse of any other tool. Thorough criticism can provide very important lesions though the process could be mistaken as harsh or personal; neither is the case here. At the least, such analyzes can point to potential pitfalls that could be avoided in the development of new theories. As will be discussed, theories are important for the development of therapies but perhaps most important, for the acceptance of new therapies, as was the case for the recent resurgence of interest in surgical therapies.</p>Review ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=39Electrophysiologic Evaluation of Psychogenic Movement Disordershttp://e-jmd.org/journal/view.php?number=37
<p>Psychogenic movement disorders (PMD) are a group of disorders which are in the border zone between neurology and psychiatry. All necessary laboratory investigations should be done to rule out an underlying organic disorder. While clinical acumen of a trained movement disorder specialist may be sufficient to diagnose most PMD, there are clinical situations where electrophysiological tests are required either to rule out an organic movement disorder or even diagnose a PMD. Current electrophysiological test are most useful for tremor, followed by jerks and least for spasms or dystonia. Commonly used electrophysiologic tests include multichannel surface electromyography (EMG), accelerometry, electroencephalography time locked with EMG, premovement potential (Bereitschaftspotential), and somatosensory evoked potentials. Psychogenic tremor is a low frequency tremor with variable frequency and duration of EMG bursts, entrainable, has a high coherence with voluntary movements, and presence of coactivation sign. Patients with psychogenic jerks have well organized triphasic pattern of activation of agonist and antagonist muscles. The jerks are associated with EMG bursts of long duration (usually > 70 ms), long and variable latencies in stimulus induced jerks, absence of craniocaudal pattern of muscle recruitment in apparent startle response, and often a Breitschaftspotential (premovement potential) precedes the jerk. Electrophysiological characterization of psychogenic dystonia is difficult and the tests are usually performed to rule out organic dystonia with characteristic findings. Finally, caution should be exerted in interpreting the electrophysiological tests as both false positive and false negative diagnosis of PMD may still occur.</p>Review ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=37Orthostatic Hypotension in Drug-Na?ve Patients with Parkinsonhttp://e-jmd.org/journal/view.php?number=35
<sec>
<title>Background and Purpose</title>
<p>Orthostatic hypotension (OH) is known to be present even in patients with early Parkinson’s disease (PD). To affirm the presence of OH and find correlation between OH and other dysautonomic symptoms in PD, this study has done in newly-diagnosed PD patients.</p></sec>
<sec>
<title>Methods</title>
<p>Forty-five non-demented patients with no prior history of treatment for PD were recruited (17 men, 63.8 ± 10.1 years of age). All the patients were evaluated for OH before starting medications. Autonomic symptoms were evaluated with structured questionnaires. Clinical characteristics of PD were evaluated (median Hoehn and Yahr stage 2.0 (1?3), 1.3 ± 1.1 years of disease duration), and comorbid medical conditions that could affect blood pressure were also recorded.</p></sec>
<sec>
<title>Results</title>
<p>OH was prevalent, and eighteen patients (40%) showed orthostatic hypotension, and twenty-seven (60%) did not (normotensive group). There was no significant difference in demographic and clinical characteristics between groups. The presence or severity of symptoms of autonomic dysfunction in the OH group also not differed from those of the normotensive group.</p></sec>
<sec>
<title>Conclusions</title>
<p>OH was prevalent even in the early stage of PD, and was not related to presence or severity of any other symptoms of autonomic dysfunction. Our findings suggest that clinicians should pay attention to OH from the early stage of disease.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=35The Sequence Effect in De Novo Parkinsonhttp://e-jmd.org/journal/view.php?number=33
<sec>
<title>Background and Purpose</title>
<p>The sequence effect (SE) in Parkinson’s disease (PD) denotes progressive slowness in speed or progressive decrease in amplitude of repetitive movements. It is a well-known feature of bradykinesia and is considered unique in PD. Until now, it was well-documented in advanced PD, but not in drug-na?ve PD. The aim of this study is to know whether the SE can also be measured in drug-na?ve PD.</p></sec>
<sec>
<title>Methods</title>
<p>We measured the SE with a computer-based, modified Purdue pegboard in 4 drug-na?ve PD patients, which matched our previous study with advanced PD patients.</p></sec>
<sec>
<title>Results</title>
<p>We observed progressive slowness during movement, that is, SE. Statistical analysis showed a strong statistical trend toward the SE with the right hand, but no significance with the left hand. There was no statistical significance of SE with either the more or less affected hands.</p></sec>
<sec>
<title>Conclusions</title>
<p>These results indicate that the SE can be identified in drug-na?ve PD, as well as in advanced PD, with objective measurements and support the idea that the SE is a feature in PD observed during the early stage of the disease without medication.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=33Cognitive Impairments in Multiple System Atrophy of the Cerebellar Typehttp://e-jmd.org/journal/view.php?number=32
<sec>
<title>Background and Purpose</title>
<p>We investigated the cognitive profiles in a large sample of patients with multiple system atrophy-cerebellar ataxia (MSA-C) and compared directly them in patients with clinical diagnosis of probable MSA-C without dementia and control subjects with intact cognition.</p></sec>
<sec>
<title>Methods</title>
<p>We prospectively enrolled 26 patients with clinical diagnosis of probable MSA-C. All patients underwent a standardized neuropsychological test of the Seoul Neuropsychological Screening Battery.</p></sec>
<sec>
<title>Results</title>
<p>The score of Korean version of the Mini- Mental State Examination was significantly lower in patients with MSA-C (27.2 ± 2.5) than in control subjects (28.9 ± 1.0, <italic>p</italic> = 0.003). Patients with MSA-C showed a significantly worse performance in visuospatial function, 3 words recall, verbal immediate, delayed and recognition memory, visual delayed memory, phonemic and sementic Controlled Oral Word Association Test, and ideomotor praxis (<italic>p</italic> < 0.05).</p></sec>
<sec>
<title>Conclusions</title>
<p>Patients with MSA-C show more severe and more widespread cognitive dysfunctions than controls. Our results also indicate that cognitive dysfunction in patients with MCA-C is suggestive of disruption of the cerebellocortical circuits.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=32Syndrome of Inappropriate Antidiuretic Hormone Secretion Associated with Pramipexole in a ...http://e-jmd.org/journal/view.php?number=38
<p>The syndrome of inappropriate antidiuretic hormone secretion (SIADH) can be caused by a variety of drugs. Dopaminergic drugs might enhance the secretion of the antidiuretic hormone arginine vasopressin by reducing γ-amino butyric acid release through the dopaminergic receptor in supraoptic nucleus. A 75-year-old woman with Parkinson’s disease developed asthenia, delirium, aggravated parkinsonian symptoms, and hypotonic hyponatremia along with the diagnostic criteria for SIADH during dose escalation of pramipexole. After pramipexole withdrawal, these symptoms disappeared, and sodium levels returned to normal values. The serum sodium levels of patients receiving pramipexole should be monitored, especially during dose escalation.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=38Unilateral Negative Myoclonus Caused by Herpes Simplex Virus Encephalitishttp://e-jmd.org/journal/view.php?number=40
<p>Various neurologic manifestations of herpes simplex virus (HSV) encephalitis have been reported on the literatures. Chorea, ballism, choreoathetosis and myoclonus were reported as movement disorders which might be related with brain lesion by HSV encephalitis, but negative myoclonus (NM) has never been reported before. NM can be characterized as a shock-like involuntary jerky movement caused by a sudden, brief interruption of muscle activity. We experienced a case of HSV encephalitis with NM in unilateral arm and leg. In polygraphic monitoring, electroencephalography (EMG) silent periods are 50?250 ms in duration with no detectable EMG correlate.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=40A Case with Improvement of Blepharospasm by Zolpidemhttp://e-jmd.org/journal/view.php?number=41
<p>Zolpidem is usually used for the treatment of insomnia as a hypnotic drug. It was also suggested to be effective in the treatment of dystonia in some studies. A 74-year-old woman had been suffering from frequent and intense bilateral spasms of the eyelids for 20 years. She has been treated with botulinum toxin injection and taken some medications. But, she experienced a little effect and was not satisfied with those treatments. Her symptom was improved after taking Zolpidem which had been prescribed for insomnia by her primary physician. She did not show any improvement after placebo injection and neostigmine test. This is the first report which shows improvement of isolated blepharospasm by Zolpidem in Korea. Zolpidem can be one of useful alternative pharmacological treatments for blepharospasm. Further randomized, blinded, placebo-controlled studies are needed to validate this finding.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=41MicroRNAs in Experimental Models of Movement Disordershttp://e-jmd.org/journal/view.php?number=30
<p>MicroRNAs (miRNAs) are small RNAs comprised of 20?25 nucleotides that regulates gene expression by inducing translational repression or degradation of target mRNA. The importance of miRNAs as a mediator of disease pathogenesis and therapeutic targets is rapidly emerging in neuroscience, as well as oncology, immunology, and cardiovascular diseases. In Parkinson’s disease and related disorders, multiple studies have identified the implications of specific miRNAs and the polymorphisms of miRNA target genes during the disease pathogenesis. With a focus on Parkinson’s disease, spinocerebellar ataxia, hereditary spastic paraplegia, and Huntington’s disease, this review summarizes and interprets the observations, and proposes future research topics in this field.</p>Review ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=30Putaminal Hypointensity in the Parkinsonian Variant of Multiple System Atrophy: Simple Visual ...http://e-jmd.org/journal/view.php?number=24
<sec>
<title>Background and Purpose</title>
<p>Susceptibility-weighted imaging (SWI) has been shown to be superior in its ability to demonstrate brain mineralization than other conventional MR imaging. The goal of our study was therefore to assess the frequency and extent of putaminal hypointensity in parkinsonian variant MSA using SWI.</p></sec>
<sec>
<title>Methods</title>
<p>11 patients with multiple system atrophy-parkinsonian type (MSA-p), 30 patients with Parkinson’s disease (PD), and age matched 30 controls were investigated using 3 Tesla MRI. The pattern of putaminal hypointensity was measured using a visual grading scale and scored from 0 to 3.</p></sec>
<sec>
<title>Results</title>
<p>Hemi- or bilateral putaminal hypointensity (a score of ≥ 2) and hyperintense rim were recognized in 81.8% and 54.5% of 11 MSA-p, respectively. The scores of putaminal hypointensity of MSA-p were significantly higher than other groups (<italic>p</italic> < 0.001), a score of ≥ 2 differentiated MSA-p from other groups. And all five patients with early disease stage also showed these characteristic findings.</p></sec>
<sec>
<title>Conclusions</title>
<p>SWI appears to be useful for depicting putaminal hypointensity even in early stage of MSA-p. This finding suggests that iron deposition associated putaminal degeneration can occur early in the disease process.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=24Lateralized Effects of Unilateral Thalamotomy and Thalamic Stimulation in Patients with ...http://e-jmd.org/journal/view.php?number=25
<sec>
<title>Background and Purpose</title>
<p>Stereotactic thalamotomy has been an effective surgical procedure in the treatment of medically refractory essential tremor (ET), however, little is known about the bilateral effects of unilateral ventralis intermedius (Vim) thalamotomy and Vim deep brain stimulation (DBS). We studied the lateralized effects of unilateral Vim thalamotomy and Vim DBS in ET patients.</p></sec>
<sec>
<title>Methods</title>
<p>Vim thalamotomy was performed in 6 patients and Vim DBS in 6. Patients were evaluated preoperatively and at 3 and 6 months postoperatively using the Clinical Rating Scale for Tremor (CRST).</p></sec>
<sec>
<title>Results</title>
<p>The contralateral Part A (tremor localization/severity rating) and Part B (specific motor tasks/function rating) subscores, and axial subscores of CRST significantly improved after unilateral Vim thalamotomy or Vim DBS. On the side ipsilateral to surgery, ET patients demonstrated no significant improvements in the Part A and Part B subscores of CRST. The Part C (functional disabilities resulting from tremor) subscores and total scores of CRST were significantly improved after surgery.</p></sec>
<sec>
<title>Conclusions</title>
<p>Vim thalamotomy and DBS may be equally effective for the management of contralateral and axial tremor in ET patients, but both interventions may not improve tremor on the side ipsilateral to surgery.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=25Analysis of the Substantia Innominata Volume in Patients with Parkinsonhttp://e-jmd.org/journal/view.php?number=28
<sec>
<title>Background and Purpose</title>
<p>The substantia innominata (SI) contains the nucleus basalis of Meynert, which is the major source of cholinergic input to the cerebral cortex. We hypothesized that degeneration of the SI and its relationship to general cognitive performance differs in amyloidopathy and synucleinopathy.</p></sec>
<sec>
<title>Methods</title>
<p>We used magnetic resonance imaging (MRI)-based volumetric analysis to evaluate the SI volume in patients with amnestic mild cognitive impairment (aMCI), Alzheimer’s disease (AD), Parkinson’s disease-mild cognitive impairment (PD-MCI), PD with dementia (PDD), dementia with Lewy bodies (DLB), and healthy elderly controls. The correlation between SI volume and general cognitive performance, measured using the Korean version of the Mini-Mental State Examination (K-MMSE), was examined.</p></sec>
<sec>
<title>Results</title>
<p>Compared to control subjects, the mean normalized SI volume was significantly decreased in all of the other groups. The normalized SI volume did not differ between the subjects with PDD and DLB, whereas it was significantly smaller in subjects with PDD (<italic>p</italic> = 0.029) and DLB (<italic>p</italic> = 0.011) compared with AD. In subjects with PD-related cognitive impairment (PD-MCI, PDD, or DLB), there was a significant positive correlation between the SI volume and K-MMSE score (<italic>r</italic> = 0.366, <italic>p</italic> < 0.001), whereas no correlation was seen in subjects with AD-related cognitive impairment (aMCI or AD).</p></sec>
<sec>
<title>Conclusions</title>
<p>Our data suggest that the SI loss is greater in synucleinopathy-related dementia (PDD or DLB) than in AD and that the contribution of the SI to cognitive performance is greater in synucleinopathy than in amyloidopathy.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=28Neuroleptic Malignant Syndrome in a Patient with Corticobasal Degenerationhttp://e-jmd.org/journal/view.php?number=27
<p>Parkinson’s disease is a principal underlying disease of neuroleptic malignant syndrome (NMS) occurring in parkinsonian disorders, but NMS may occur in patients with progressive supranuclear palsy and multiple system atrophy. We report first patient with corticobasal degeneration (CBD) who developed NMS after abrupt reduction of antiparkinsonian medication and concurrent infection. It should be kept in mind that the prevention of infectious illness, which is common complication in parkinson-plus syndrome, is important, and dose reduction or withdrawal of anti-parkinsonian medications should be carefully performed even in the patients with CBD who are expected to be unresponsive to levodopa treatment.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=27Oromandibular Dyskinesia as the Initial Manifestation of Late-Onset Huntington Diseasehttp://e-jmd.org/journal/view.php?number=29
<p>Huntington’s disease (HD) is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene. Typical age at onset of symptoms is in the 40s, but the disorder can manifest at any time. Late-onset (≥ 60 years) HD is clinically different from other adult or juvenile onset HD and characterized by mild motor problem as the initial symptoms, shorter disease duration, frequent lack of family history, and relatively low CAG repeats expansion. We report a case of an 80-year-old female with oromandibular dyskinesia as an initial manifestation of HD and 40 CAG repeats.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=29Concomitant Appearance of Pisa Syndrome and Striatal Hand in Parkinsonhttp://e-jmd.org/journal/view.php?number=26
<p>Pisa syndrome is (PS) usually seen in patients receiving antipsychotic drugs and characterised by lateral flexion of trunk and axial dystonia. It is believed that antipsychotic drugs lead to dopamine blockage causing PS. We describe a Parkinson’s disease patient who was doing well with levodopa/carbidopa for 3 years and developed lateral flexion of trunk. His abnormal posture used to completely improve upon lying down position. He also had striatal hand deformity suggestive of focal dystonia.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=26Vocal Polyps in Tourette Syndromehttp://e-jmd.org/journal/view.php?number=23
<p>Hoarseness and dysphonia are often a result of vocal cord polyps which in turn, are linked to vocal trauma. We report the case of vocal polyps in the setting of a 27-year old male with a history only remarkable for Tourette syndrome. We review the literature regarding etiology and pathophysiology of vocal cord lesions and propose vocal tics in Tourette syndrome as an under-recognized etiology. In this way, we also review therapies that may aid in treating not only the vocal cord lesions but also particularly in the setting of vocal tics.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=23Dopa Responsive Slow Orthostatic Tremor in Parkinsonhttp://e-jmd.org/journal/view.php?number=31
<p>Slow orthostatic tremor (OT) occurred to longer and lower frequency regular rhythmic bursts in leg muscle upon standing. The slow OT was often able to clinically confused with orthostatic myoclonus. We described a Parkinson’s disease patient with levodopa responsive slow OT. She showed abnormal movements of more regular rhythms and stable frequency on both legs on standing. These symptoms were aggravated at off state and improved by increasing levodopa.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=31Human Genetic Variation and Parkinsonhttp://e-jmd.org/journal/view.php?number=56
<p>Parkinson’s disease (PD) is a chronic neurodegenerative disorder with multifactorial etiology. In the past decade, the genetic causes of monogenic forms of familial PD have been defined. However, the etiology and pathogenesis of the majority of sporadic PD cases that occur in outbred populations have yet to be clarified. The recent development of resources such as the International HapMap Project and technological advances in high-throughput genotyping have provided new basis for genetic association studies of common complex diseases, including PD. A new generation of genome-wide association studies will soon offer a potentially powerful approach for mapping causal genes and will likely change treatment and alter our perception of the genetic determinants of PD. However, the execution and analysis of such studies will require great care.</p>Review ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=56Comparing Cerebral White Matter Lesion Burdens between Parkinsonhttp://e-jmd.org/journal/view.php?number=54
<p>Cerebral white matter lesions (CWMLs) have been suggested to be associated with an increased risk of dementia, disability, and death. CWMLs are more common in individuals with Alzheimer’s disease (AD) than in normal elderly individuals of comparable age. Only a few studies have been done to determine whether CWMLs may influence cognitive decline in Parkinson’s disease (PD). Fully developed PD with concurrent AD was reported to likely cause impaired cognition in spite of accumulating evidence suggesting that PD with dementia (PDD) is more closely associated with Lewy body (LB) pathology. Currently, contradictory data on the neuropathology of dementia in PD require further prospective clinicopathological studies in larger cohorts to elucidate the impact of AD and α-synuclein (SCNA) pathologies on the cognitive status in these disorders. Previous reports did not suggest CWMLs to be associated with an increased risk of PDD. After adjusting for age at death, age at onset of PD, and duration of PD, our recent study investigating CWMLs in PDD via autopsy has shown a positive correlation between the burden of CWMLs and PDD. The frequent co-existence of both LB and AD lesions suggests that both pathologies independently or synergistically contribute to both movement disorders and cognitive impairment. The individual and cumulative burden of CWMLs, LB lesions, and AD lesions may synergistically contribute to cognitive decline in LB disorders such as PDD.</p>Review ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=54Clinicopathological Correlates of Lewy Body Disease: Fundamental Issueshttp://e-jmd.org/journal/view.php?number=52
<p>Lewy body pathology (LBP) is the pathological hallmark of Lewy body diseases, such as Parkinson’s disease and Lewy body dementia. Recent studies have shed new light on the role of LBP, the interactions of LBP with concomitant pathologies, and the propagation of LBP from the olfactory bulb and enteric nervous system to the central nervous system. The intrinsic difficulty with identifying clinicopathological correlates could be overcome by improving our understanding of the pathological evolution of LBP.</p>Review ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=52Psychogenic Gait Disorders after Mass School Vaccination of Influenza Ahttp://e-jmd.org/journal/view.php?number=53
<sec>
<title>Background and Purpose</title>
<p>Psychogenic movement disorders (PMD) after war or mass vaccination was reported and well known disease entity already. However, we have seldom been met those patients because we don’t have any chance to experience of those events. Recently, influenza A (H1N1) spreads around world, and many countries have a program of mass vaccination of H1N1. Although PMD in adult is well characterized, childhood-onset PMD has not been extensively studied.</p></sec>
<sec>
<title>Case Reports</title>
<p>We present four children of psychogenic gait disorders (PGDs) after mass school vaccination of H1N1. They had fluctuating weakness and their prognosis was good. We confirmed all patients as PGD by placebo.</p></sec>
<sec>
<title>Conclusions</title>
<p>Our four cases have two common characteristics. One is that all were young and their prognosis was good. And the other is that all were induced their abnormal gait symptoms after mass school vaccination. We observed that mass PMD has a different characteristics comparing to personal PMD, and PMD in children is differ from adult onset PMD.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=53Action Tremor Associated with Lamotrigine Monotherapyhttp://e-jmd.org/journal/view.php?number=55
<p>Lamotrigine (LTG) is associated with a tremor when given in combination with valproic acid; however, a tremor associated with lamotrigine monotherapy is rare. Here, we report a case of positional and action tremor associated with lamotrigine use. Based on the temporal relationship, it is conceivable that lamotrigine increases serotonin transmission or affects basal ganglia dopamine activity, thereby causing the tremor.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=55Hemichorea-Hemiballism with a Diabetic Patienthttp://e-jmd.org/journal/view.php?number=51
<p>Chorea and ballism are movement disorders that result from a variety of conditions. They are an uncommon manifestation of diabetes mellitus. We report a 52-year-old diabetic man who presented with acute onset chorea-ballism with a putaminal high-signal-intensity lesion on T1-weighted magnetic resonance imaging (MRI).</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=51Restlessness with Manic Episodes due to Right Parietal Infarctionhttp://e-jmd.org/journal/view.php?number=50
<p>Mood disorders following acute stroke are relatively common. However, restlessness with manic episodes has rarely been reported. Lesions responsible for post-stroke mania can be located in the thalamus, caudate nucleus, and temporal and frontal lobes. We present a patient who exhibited restlessness with manic episodes after an acute infarction in the right parietal lobe, and summarize the case reports involving post-stroke mania. The right parietal stroke causing mania in our case is a novel observation that may help us to understand the mechanisms underlying restlessness with mania following acute stroke.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=50Leucine-Rich Repeat Kinase 2-Linked Parkinsonhttp://e-jmd.org/journal/view.php?number=47
<p>Mutations in Leucine-rich repeat kinase 2 (LRRK2) gene are the most common cause of sporadic and familial late onset Parkinson’s disease (PD). The G2019S common mutation has been identified about 1% of sporadic cases and 4?7% of familial cases. Over 50 variants have since been identified in LRRK2, and at least 7 of these are confirmed to be pathogenic. In addition to pathogenic mutations, several common polymorphisms in the LRRK2 gene (G2385R and R1628P) have been identified that may explain up to 10% of sporadic PD in Asian populations. LRRK2 is a large complex multidomain protein with 2,527-amino-acid and the molecular weight is 286 kDa. LRRK2 multidomain protein consists of a catalytic core domain, kinase domain and a number of putative protein-protein interaction domains. LRRK2 mutations found in PD families, including the G2019S and I2020T mutations show increased intrinsic kinase activity, when assessed with myelin basic protein as substrate. The modification of LRRK2 GTPase and kinase activity affecting residues in the ROC, COR and mitogen-activated protein kinase kinase kinases domains is believed to lead to neuronal cell death, but the pathways involved remain unclear. A number of <italic>in vivo</italic> models in <italic>C. elegans, D. melanogaster</italic> and mice have been developed to study the patho/physiological function of LRRK2. Based on current literature, a toxic gain of function in LRRK2 kinase activity is a possible pathophysiologic mechanism and thus inhibition of kinase activity in experimental models offers a potential therapeutic strategy for LRRK2-linked PD.</p>Review ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=47X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeuticshttp://e-jmd.org/journal/view.php?number=43
<p>The clinical phenotype of X-Linked Dystonia Parkinsonism (XDP) is typically one that involves a Filipino adult male whose ancestry is mostly traced in the Philippine island of Panay. Dystonia usually starts focally in the lower limbs or oromandibular regions, then spreads to become generalized eventually. Parkinsonism sets in later into the disease and usually in combination with dystonia. /DYT3/ and /TAF1/ are the two genes associated with XDP. An SVA retrotransposon insertion in an intron of /TAF1/ may reduce neuron-specific expression of the /TAF1/ isoform in the caudate nucleus, and subsequently interfere with the transcription of many neuronal genes. Polypharmacy with oral benzodiazepines, anticholinergic agents and muscle relaxants leaves much to be desired in terms of efficacy. The medications to date that may appear beneficial, especially in disabling dystonias, are zolpidem, muscle afferent block with lidocaine-ethanol and botulinum toxin type A. Despite the few cases undergoing deep brain stimulation, this functional surgery has shown the greatest promise in XDP. An illustrative case of XDP in a family depicts the variable course of illness, including a bout of “status dystonicus,” challenges in therapy, reckoning with the social impact of the disease, and eventual patient demise. Indeed, there remains some gaps in understanding some phenomenological, genetic and treatment aspects of XDP, the areas upon which future research directions may be worthwhile.</p>Review ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=43Four Cases with Peripheral Trauma Induced Involuntary Movementshttp://e-jmd.org/journal/view.php?number=48
<sec>
<title>Background and Purpose</title>
<p>Although peripheral trauma induced movement disorders have been rarely reported, diagnostic criteria for peripherally induced movement disorders (PIMD) have been established. Because preexisting subclinical movement disorders, or secondary gain for compensation and legal purposes are difficult to confirm, differential diagnosis for physicians still remains difficult.</p></sec>
<sec>
<title>Case Reports</title>
<p>We present four patients developed movement disorders after relatively various intervals after traffic accident. Three patients of them showed tremor and one patient presented propriospinal myoclonus. In this report, we investigate whether peripheral trauma can lead to movement disorders and describe the relationship between peripheral injury and movement disorders in four cases.</p></sec>
<sec>
<title>Conclusions</title>
<p>Injury was serious enough to develop involuntary abnormal movements with pain and the latency between injury and the onset of movements in all of cases was less than 1 year. Thus, our cases showed temporal and anatomical correlation between injury and the onset of movement disorder, strongly supporting the cause-and-effect relationship by previous diagnostic criteria for peripherally induced movement disorders.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=48Cardiac 123I-metaiodobenzylguanidine Scintigraphy in a Patient with Familial Parkinsonism with ...http://e-jmd.org/journal/view.php?number=49
<p>A decreased cardiac <sup>123</sup>I-metaiodobenzylguanidine (<sup>123</sup>I-MIBG) uptake has been used as a powerful tool to identify Lewy body disease, such as idiopathic parkinson’s disease (IPD). We performed cardiac <sup>123</sup>I-MIBG scintigraphy in patient with autosomal recessive juvenile parkinsonism (ARJP) with <italic>parkin</italic> gene mutation (PARK2). The findings showed normal cardiac <sup>123</sup>I-MIBG uptake. Therefore, although the clinical features of ARJP are sometimes quite similar to those of late-onset IPD, cardiac <sup>123</sup>I-MIBG scintigraphy may be used as a valuable tool to identify patients with IPD and to distinguish them from patients with other parkinsonian syndromes.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=49A Case of Juvenile Huntington Disease in a 6-Year-Old Boyhttp://e-jmd.org/journal/view.php?number=44
<p>Huntington disease is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and dementia, usually with onset in the fourth and fifth decades. It is caused by an unstable cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the gene IT15 in locus 4p16.3. Juvenile HD that constitutes about 3% to 10% of all patients is clinically different from adult-onset form and characterized by a larger number of CAG repeats typically exceeding 60. We report a case of a 6-year-old boy with myoclonic seizure and 140 CAG repeats confirmed by molecular genetic analysis.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=44A Case of Action-Induced Clonus that Mimicked Action Tremors and was Associated with Cervical ...http://e-jmd.org/journal/view.php?number=42
<p>Clonus is the rhythmic muscle contraction which usually occurs in patients with lesions involving descending motor pathways. Sometimes, rhythmic oscillation of action induced clonus could be confused to action tremor. We report a case of action induced clonus associated with cervical schwannoma which was misdiagnosed as essential tremor. The patient had spasticity in all limbs with exaggerated tendon reflexes, and passive stretch-induced clonus. Imaging and histological examinations revealed a schwannoma extending from C2 to C7. The lesion was partially removed by surgery. Even though essential tremor is a common disease, clinician have to do sufficient neurologic examination considering differential diagnosis.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=42Preserved Glucose Metabolism of Deep Cerebellar Nuclei in a Case of Multiple System Atrophy ...http://e-jmd.org/journal/view.php?number=46
<p>The cerebellar glucose metabolism of multiple system atrophy with predominant cerebellar ataxia (MSA-C) is known to be decreased but is not defined among areas of cerebellum. We encountered a 54-year-old man who developed dizziness and progressive ataxia followed by urinary incontinence and orthostatic hypotension, all of those symptoms progressed relentlessly and the symptoms responded poorly to levodopa therapy. Visual analysis and statistical parametric mapping analysis of F-18 fluorodeoxyglucose positron emission tomography showed hypometabolism of both cerebellar hemisphere, severe at cortical area, and pons. There was clear sparing of deep cerebellar nuclei. Our report, as we know, shows the first case of preserved glucose metabolism of deep cerebellar nuclei relative to cerebellar cortex in an MSA-C patient.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=46Syndrome of Inappropriate Antidiuretic Hormone Secretion Associated with Pramipexole in a ...http://e-jmd.org/journal/view.php?number=45
<p>The syndrome of inappropriate antidiuretic hormone secretion (SIADH) can be caused by a variety of drugs. Dopaminergic drugs might enhance the secretion of the antidiuretic hormone arginine vasopressin by reducing γ-amino butyric acid release through the dopaminergic receptor in supraoptic nucleus. A 75-year-old woman with Parkinson’s disease developed asthenia, delirium, aggravated parkinsonian symptoms, and hypotonic hyponatremia along with the diagnostic criteria for SIADH during dose escalation of pramipexole. After pramipexole withdrawal, these symptoms disappeared, and sodium levels returned to normal values. The serum sodium levels of patients receiving pramipexole should be monitored, especially during dose escalation.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=45The Neuropathologic Substrate of Parkinson Disease Dementiahttp://e-jmd.org/journal/view.php?number=88
Thu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=88Apomorphine and Levodopa Infusion Therapies for Advanced Parkinsonhttp://e-jmd.org/journal/view.php?number=90
<p>Continuous infusion of levodopa or apomorphine provide constant dopaminergic stimulations are good alternatives to deep brain stimulation to control motor fluctuations in patients with advanced Parkinson’s disease (PD). Apomorphine provides motor benefit similar to dopamine, but its long-term use is limited by compliance, mostly injection site skin reactions. Administration of levodopa/carbidopa by continuous duodenal infusion allows replacement of all oral medications and permits achievement of a satisfactory therapeutic response paralleled by a reduction in motor complication severity. However, this procedure is more invasive than apomorphine as it requires a percutaneous endoscopic gastrostomy Clinical experience with infusions shows that continuous dopaminergic stimulation of dopaminergic medications reduces dyskinesia and widens the therapeutic window in advanced PD.</p>Thu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=90Dopamine Agonist Therapy in Advanced Parkinsonhttp://e-jmd.org/journal/view.php?number=94
Thu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=94Electrophysiologic Assessments of Involuntary Movements: Tremor and Myoclonushttp://e-jmd.org/journal/view.php?number=93
<p>Tremor is defined as a rhythmical, involuntary oscillatory movement of a body part. Although neurological examination reveals information regarding its frequency, regularity, amplitude, and activation conditions, the electrophysiological investigations help in confirming the tremor, in differentiating it from other hyperkinetic disorders like myoclonus, and may provide etiological clues. Accelerometer with surface electromyogram (EMG) can be used to document the dominant frequency of a tremor, which may be useful as certain frequencies are more characteristic of specific etiologies than others hyperkinetic disorders. It may show rhythmic bursts, duration and activation pattern (alternating or synchronous). Myoclonus is a quick, involuntary movement. Electrophysiological studies may helpful in the evaluation of myoclonus, not only for confirming the clinical diagnosis but also for understanding the underlying physiological mechanisms. Electroencephalogram (EEG)-EMG correlates can give us important information about myoclonus. Jerk-locked back-averaging and evoked potentials with recording of the long-latency, long-loop reflexes are currently available to study the pathophysiology of myoclonus.</p>Review ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=93The Occurrence of Fatigue in Independent and Clinically Stable Filipino Patients with ...http://e-jmd.org/journal/view.php?number=89
<sec>
<title>Background:</title>
<p>Fatigue is a multidimensional problem affecting patients suffering from Parkinson’s disease (PD). It is ranked as one of the most bothersome symptom of patients with Parkinson’s disease. The study primarily aims to determine the presence of fatigue among clinically stable and independent Filipino patients suffering from idiopathic PD.</p></sec>
<sec>
<title>Methods:</title>
<p>This study is a prospective cross-sectional study. Recruited patients and control group were all Filipinos. Only independent patients with idiopathic, stable and non-fluctuating PD were included in the study. Those eligible underwent a multitude of screening tests to rule out presence of dementia (Mini Mental Status Examination, MMSE), depression (Montgomery-?sberg Depression Rating Scale, MADRS), anxiety (Hamilton Anxiety Scale, HAM-A) and sleep disturbance. Disease severity was assessed using the Unified Parkinson’s Disease Rating Scale (UPDRS) and fatigue severity using both the Multicomponent Fatigue Index (MFI) and Fatigue Severity Inventory (FSI).</p></sec>
<sec>
<title>Results:</title>
<p>Twenty-eight patients underwent the study. The mean Hoehn and Yahr staging was 1.79. Patients with PD scored higher on both FSI and MFI (individual dimension scores and total score) as compared to the normal controls.</p></sec>
<sec>
<title>Conclusions:</title>
<p>The outcome of the study confirmed the presence of fatigue (general, physical, mental), even in clinically stable and independent patients suffering from idiopathic PD, when compared with age-matched healthy controls.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=89Comparison of Cerebral Glucose Metabolism between Possible and Probable Multiple System Atrophyhttp://e-jmd.org/journal/view.php?number=92
<sec>
<title>Background:</title>
<p>To investigate the relationship between presenting clinical manifestations and imaging features of multisystem neuronal dysfunction in MSA patients, using <sup>18</sup>F-fluorodeoxyglucose positron emission tomography (<sup>18</sup>F-FDG PET).</p></sec>
<sec>
<title>Methods:</title>
<p>We studied 50 consecutive MSA patients with characteristic brain MRI findings of MSA, including 34 patients with early MSA-parkinsonian (MSA-P) and 16 with early MSA-cerebellar (MSA-C). The cerebral glucose metabolism of all MSA patients was evaluated in comparison with 25 age-matched controls. <sup>18</sup>F-FDG PET results were assessed by the Statistic Parametric Mapping (SPM) analysis and the regions of interest (ROI) method.</p></sec>
<sec>
<title>Results:</title>
<p>The mean time from disease onset to <sup>18</sup>F-FDG PET was 25.9±13.0 months in 34 MSA-P patients and 20.1±11.1 months in 16 MSA-C patients. Glucose metabolism of the putamen showed a greater decrease in possible MSA-P than in probable MSA-P (<italic>p</italic>=0.031). Although the Unified Multiple System Atrophy Rating Scale (UMSARS) score did not differ between possible MSA-P and probable MSA-P, the subscores of rigidity (<italic>p</italic>=0.04) and bradykinesia (<italic>p</italic>= 0.008) were significantly higher in possible MSA-P than in probable MSA-P. Possible MSA-C showed a greater decrease in glucose metabolism of the cerebellum than probable MSA-C (<italic>p</italic>=0.016).</p></sec>
<sec>
<title>Conclusions:</title>
<p>Our results may suggest that the early neuropathological pattern of possible MSA with a predilection for the striatonigral or olivopontocerebellar system differs from that of probable MSA, which has prominent involvement of the autonomic nervous system in addition to the striatonigral or olivopontocerebellar system.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=92Unilateral Standing Leg Tremor as the Initial Manifestation of Parkinson Diseasehttp://e-jmd.org/journal/view.php?number=82
<sec>
<title>Background:</title>
<p>The aim of this study was to analyze the different forms of leg tremors exhibited while standing in patients with Parkinson disease (PD), and to determine if the type of leg tremor exhibited is indicative of prognosis or treatment response in PD patients.</p></sec>
<sec>
<title>Methods:</title>
<p>We studied the clinical characteristics of five PD patients (all women; mean age, 59 years, range, 53?64 years) with unilateral standing leg tremor as the initial manifestation of PD, including their electrophysiological findings and the results of long-term follow-up.</p></sec>
<sec>
<title>Results:</title>
<p>For each patient, parkinsonism either existed at the time of onset of the initial symptoms or developed later. Patient responses to drugs were generally good, but one patient showed a poor response to drugs, even though she had only a low frequency leg tremor. For two patients whom we could observe during the 10-year follow-up period, neither the leg tremor nor parkinsonism was aggravated.</p></sec>
<sec>
<title>Conclusions:</title>
<p>There are two forms of unilateral standing leg tremor in PD. One form is high frequency, similar to the primary orthostatic tremor. The other is low frequency and similar to the parkinsonian resting tremor. Based on these observations, it appears that progression might be slow if PD patients have standing leg tremor as the initial manifestation.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=82Hyperhomocysteinemia in Patients with Parkinsonhttp://e-jmd.org/journal/view.php?number=95
<sec>
<title>Background:</title>
<p>Plasma homocysteine (Hcy) levels are increased in patients with Parkinson’s disease (PD) undergoing levodopa treatment. We measured the Hcy levels in PD patients and assessed the relationship between Hcy level and features of PD, cognitive function and vitamin B status.</p></sec>
<sec>
<title>Methods:</title>
<p>Concentrations of Hcy, vitamin B<sub>12</sub> and folate were measured in 33 PD patients and 41 normal control individuals. Mini-mental Status Examination (MMSE) was assessed in all subjects. In PD patients, Hoehn & Yahr stage and Unified Parkinson Disease Rating Scale (UPDRS) motor scores were also examined.</p></sec>
<sec>
<title>Results:</title>
<p>Plasma Hcy levels were lower in PD patients than in control individuals. Hcy level was inversely correlated with vitamin B<sub>12</sub> and folate levels in the PD group but not in control individuals. Age, symptom duration, UPDRS motor scores, MMSE score, levodopa dose and duration of treatment did not differ between patients with Hcy >14 μmol/L and those with Hcy <14 μmol/L.</p></sec>
<sec>
<title>Conclusions:</title>
<p>Plasma Hcy levels were increased in PD patients with levodopa treatment and were related to vitamin B level. These results indicate that vitamin supplementation may be beneficial in levodopa-treated PD patients, although hyperhomocysteinemia did not affect the motor and cognitive status of PD patients.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=95Generalized Chorea Induced by an Unilateral Anterior Cerebral Artery Territorial Infarctionhttp://e-jmd.org/journal/view.php?number=86
<p>Generalized chorea caused by unilateral cerebral infarction has rarely been reported. A 58-year-old woman presented involuntary movement in her all extremities after acute cerebral infarction on her right anterior cerebral artery territory. The involuntary movements were diagnosed as generalized chorea. We didn’t find any cause of generalized chorea except the acute cerebral infarction. Here, we described the case of generalized chorea after unilateral cerebral infarction discussing the possible mechanisms.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=86Painless Legs and Moving Toes as an Initial Presentation of Ischemic Strokehttp://e-jmd.org/journal/view.php?number=84
<p>Painless legs and moving toes is an unusual syndrome, which has not previously been reported as an initial presentation of ischemic stroke. We encountered a 78-year-old woman who developed dysarthria and involuntary movement of her left toes that was clinically regarded as painless legs and moving toes. These symptoms appeared abruptly and simultaneously as the initial symptoms of stroke, and improved gradually with conservative management by intravenous hydration for a month. We suggest that, in our case, a cortical brain lesion caused by ischemic stroke might be associated with the development of painless legs and moving toes.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=84Parkinsonsim due to a Chronic Subdural Hematomahttp://e-jmd.org/journal/view.php?number=91
<p>Subdural hematoma is a rare cause of parkinsonism. We present the case of a 78-year-old man with right-side dominant parkinsonism about 3 months after a minor head injury. MRI reveals a chronic subdural hematoma on the left side with mildly displaced midline structures. The parkinsonian features were almost completely disappeared after neurosurgical evacuation of the hematoma without any anti-parkinson drug.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=91Novel Compound Heterozygous Mutations in the Pantothenate Kinase 2 Gene in a Korean Patient ...http://e-jmd.org/journal/view.php?number=83
<p>Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder that is characterized by mutations in the pantothenate kinase 2 gene (<italic>PANK2</italic>) and typical magnetic resonance imaging findings. We report a case of atypical PKAN presenting with generalized dystonia. Our patient had compound heterozygous mutations in the <italic>PANK2</italic> gene, including mutation in exon 3 (p.D268G) and exon 4 (p.R330P). To our knowledge, this patient is the first to have the p.R330P mutation and the second to have the p.D268G mutation.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=83Oculogyric Crisis Associated with Disulfiram-Induced Pallidonigral Lesionhttp://e-jmd.org/journal/view.php?number=85
<p>We report a man who developed oculogyric crisis one month after disulfiram intoxication. Brain MRI showed lesions involving bilateral globus pallidus and left substantia nigra. In our patient, neuronal discharges from pathologically reorganized basal ganglia circuit to the mid-brain ocular motor center might lead to tonic deviation of the eyes.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=85Adult Onset Familial Cherry-Red Spot Myoclonushttp://e-jmd.org/journal/view.php?number=87
<p>We report a case of a 36-year-old woman with progressive generalized myoclonus that first became apparent 9 years ago. Her younger brother had similar problems. Examination of her eyes revealed cherry-red spots. Hexosaminidase A, β-galactosidase and neuraminidase activity were normal. Although the laboratory findings were negative, cherry-red spots, progressive myoclonus and autosomal recessive inheritance pattern suggested that she had an unknown type of lysosomal storage disease.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=87Positron Emission Tomography in the Differential Diagnosis of Parkinsonismhttp://e-jmd.org/journal/view.php?number=69
<p>Positron emission tomography (PET) studies on presynaptic dopaminergic function can reveal hypofunction in early Parkinson’s disease (PD) which may help in the early diagnosis especially in patients with mild symptoms. This hypofunction can be detected with fluorodopa (reflecting mainly aromatic amino acid decarboxylase activity of nigrostriatal terminals) or dopamine transporter ligands. These studies can also help to distinguish PD from essential tremor. However, investigations of presynaptic dopaminergic function are not useful in the differential diagnosis of parkinsonian syndromes. PET ligands, such as fluorodeoxyglucose (reflecting glucose metabolism) and dopamine receptor ligands, reflecting striatal neuronal function are better in this respect. Cardiac sympathetic function studies represent a new and interesting approach to improve differential diagnosis of parkinsonian syndromes but more studies are needed in larger patient populations with longer follow-up to evaluate the usefulness of these investigations. Multitracer approach combining ligands reflecting different aspects of dopaminergic neurotransmission and other physiological function will increase differential diagnostic accuracy.</p>Thu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=69Secondary Dystonia-Clinical Clues and Syndromic Associationshttp://e-jmd.org/journal/view.php?number=57
<sec>
<title>Background:</title>
<p>Dystonia is a hyperkinetic movement disorder defined by involuntary sustained muscle spasms and unusual postures. Etiologically, dystonic syndromes can be broadly divided into primary and secondary forms, dystonia-plus syndromes and heredodegenerative forms. In particular, diagnosis of secondary dystonic syndromes can be challenging in view of the variety of causes.</p></sec>
<sec>
<title>Purpose:</title>
<p>The purpose of this article is to highlight some clinical clues and syndromic associations as well as investigational findings which may be helpful in the approach to a patient with suspected secondary dystonia.</p></sec>
<sec>
<title>Methods:</title>
<p>We outline characteristic clinical and neuroimaging findings which may be directive in the diagnostic process of dystonia patients and facilitate making the correct diagnosis, thus allowing initiating the best treatment.</p></sec>
<sec>
<title>Results:</title>
<p>Secondary causes of dystonia include, among others, strategic brain lesions of various origins, metabolic disease, neurodegenerative conditions, and previous exposure to drugs or toxins. Presence of clinical signs including prominent oromandibular involvement, eye movement disorders, retinitis pigmentosa, deafness, peripheral neuropathy, parkinsonism or progressive dementia should alert the clinician to consider a secondary cause. Strategic lesions within the basal ganglia, but also within the brainstem, cerebellum or cortical areas may underlie dystonia and should thus be excluded.</p></sec>
<sec>
<title>Conclusions:</title>
<p>When thorough clinical examination reveals features atypical of primary dystonia, syndromic associations may help the clinician to narrow down the list of differential diagnosis. Directive investigations like neuroimaging may confirm the clinical suspicion.</p></sec>Review ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=57Usefulness of Diffusion-Weighted MRI for Differentiation between Parkinsonhttp://e-jmd.org/journal/view.php?number=67
<sec>
<title>Background and Purpose:</title>
<p>Several studies have reported that diffusion-weighted imaging (DWI) is able to help discriminate a Parkinson variant of multiple system atrophy (MSA-p) from Parkinson’s disease (PD) on the basis of the increased regional apparent diffusion coefficient (rADC). We analyzed the usefulness of DWI by using the rADC for differential diagnosis between MSA-p and PD and investigated the correlation between the rADC value and clinical features of MSA-p and PD.</p></sec>
<sec>
<title>Methods:</title>
<p>Twelve patients with PD and 10 with MSA-p were studied. The rADC value was determined in different brain regions, including the dorsal putamen (DP) and middle cerebellar peduncles (MCP).</p></sec>
<sec>
<title>Results:</title>
<p>The rADC values of the DP showed a greater increase in MSA-p patients than in PD patients (<italic>p</italic>=0.03). MSA-p patients also presented increased rADC values of the MCP compared with PD patients (<italic>p</italic>=0.0001). In particular, the sensitivity, specificity and positive predictive values of the MCP rADC were higher than those of the DP rADC. However, DP and MCP rADC values were not correlated with clinical features in either MSA or PD patients.</p></sec>
<sec>
<title>Conclusions:</title>
<p>DWI discriminated between PD and MSA-p based on rADC values in DP and MCP. The MCP rADC value, in particular, could better discriminate MSA-p from PD.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=67Anticholinergic Agents Can Induce Oromandibular Dyskinesiahttp://e-jmd.org/journal/view.php?number=63
<sec>
<title>Background and Purpose:</title>
<p>Oromandibular dyskinesia (OMD) can occur spontaneously or they can be induced by the conventional dopamine receptor antagonists. Anticholinergic medications have rarely been reported to cause OMD in parkinsonian or non-parkinsonian patients.</p></sec>
<sec>
<title>Methods:</title>
<p>We analyzed the clinical features of two parkinsonian and one non-parkinsonian patients who experienced OMD after anticholinergic medication.</p></sec>
<sec>
<title>Results:</title>
<p>Each patient of our cases developed oromandibular symptoms in the temporal regions that were related to the addition of anticholinergic agents, and the symptoms were relieved following the discontinuation of the causative anticholinergic drugs. In one of our case, levodopa alone did not cause dyskinesia but augmented dyskinesia associated with anticholinergics.</p></sec>
<sec>
<title>Conclusions:</title>
<p>Here we report two parkinsonian and one non-parkinsonian patients with OMD induced by the use of anticholinergic agents. In our cases, we could not find any other precipitating or actual secondary causes for the OMD symptoms in our patients. Furthermore, the fact that the OMD in our cases were ameliorated with cessation of anticholinergics suggests that it may be anticholinergic-induced.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=63Autonomic Dysfunctions in Parkinsonian Disordershttp://e-jmd.org/journal/view.php?number=60
<sec>
<title>Background and Purpose:</title>
<p>Symptoms of autonomic dysfunctions are common in the patients with parkinsonian disorders. Because clinical features of autonomic dysfunctions are diverse, the comprehensive evaluation is essential for the appropriate management. For the appreciation of autonomic dysfunctions and the identification of differences, patients with degenerative parkinsonisms are evaluated using structured questionnaire for autonomic dysfunction (ADQ).</p></sec>
<sec>
<title>Methods:</title>
<p>Total 259 patients, including 192 patients with [idiopathic Parkinson’s disease (IPD, age 64.6 ± 9.6 years)], 37 with [multiple system atrophy (MSA, 62.8 ± 9.1)], 9 with [dementia with Lewy body (DLB, 73.9 ± 4.3)], and 21 with [progressive supranuclear palsy (PSP, 69.4 ± 9.6)]. The ADQ was structured for evaluation of the presence of symptoms and its severity due to autonomic dysfunction, covering gastrointestinal, urinary, sexual, cardiovascular and thermoregulatory domains. Patients were also evaluated for the orthostatic hypotension.</p></sec>
<sec>
<title>Results:</title>
<p>Although dementia with Lewy body (DLB) patients were oldest and duration of disease was longest in IPD, total ADQ scores of MSA and PSP (23.9 ± 12.6 and 21.1 ± 7.8) were significantly increased than that of IPD (15.1 ± 10.6). Urinary and cardiovascular symptom scores of MSA and gastrointestinal symptom score of PSP were significantly worse than those of IPD. The ratio of patient with orthostatic hypotension in IPD was 31.2% and not differed between groups (35.1% in MSA, 33.3% in DLB and 33.3% in PSP). But the systolic blood pressure dropped drastically after standing in patients with MSA and DLB than in patients with IPD and PSP.</p></sec>
<sec>
<title>Conclusions:</title>
<p>Patients with degenerative parkinsonism showed widespread symptoms of autonomic dysfunctions. The severity of those symptoms in patients with PSP were comparing to that of MSA patients and worse than that of IPD.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=60Paroxysmal Chorea as a Relapse of Myelopathy in a Patient with Neuromyelitis Opticahttp://e-jmd.org/journal/view.php?number=66
<p>Movement disorders secondary to intrinsic spinal cord disease are rare. Paroxysmal chorea has not yet been reported in the neuromyelitis optica (NMO). We report a 43-year-old woman with relapsing-remitting cervical myelopathy who developed paroxysmal chorea during clinical exacerbation of NMO. MRI scan of the cervical spine revealed a long segmental enhancing lesion, but brain MRI did not show any responsible abnormalities. Acute exacerbation of recurrent myelopathy in NMO may be associated with transient movement disorder.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=66A Case of Vascular Hemichorea Responding to Topiramatehttp://e-jmd.org/journal/view.php?number=64
<p>Although vascular chorea often comes into remission spontaneously, a few patients may remain with persistent movement disorder. Most movements respond well to neuroleptics as well as other antidopaminergic drugs, but some patients show poor responses to those neuroleptics. Topiramate is a widely used of broad-spectrum anticonvulsant possessing a complex mechanism of action. It has been proven to enhance gamma-aminobutyrate acid activity and to be effective in the control of other movement disorders. We describe a 63-year-old woman with intractable vascular hemichorea which was controlled with anti-convulsant, topiramate.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=64Hemidystonia as an Initial Manifestation of Leptomeningeal Metastasishttp://e-jmd.org/journal/view.php?number=65
<p>A 76-year-old woman gradually developed action dystonia of the left hand and foot. Leptomeningeal metastasis of the right fronto-parietal area associated with gastric adenocarcinoma was found on the brain magnetic resonance imaging (MRI) and positron emission tomography (PET) studies. We discuss the mechanisms involved in the development of secondary hemidystonia and review dystonia associated with cortical lesions.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=65Disabling Head Tremor in a Patient with DYT1 Mutationhttp://e-jmd.org/journal/view.php?number=68
<p>Dystonic head tremor is known to be a feature in some patients with DYT1 mutation. However, isolated tremor of the head without relevant cervical dystonia has rarely been described. We report here a patient with the three-bp GAG deletion in the DYT1 gene (904_906delGAG) who had severe head tremor in the frame of a generalized limb dystonia.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=68A Cerebellar Tremor in a Patient with Human Immunodeficiency Virus-1 Associated with ...http://e-jmd.org/journal/view.php?number=61
<p>Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the central nervous system (CNS) caused by JC virus infection in oligodendrocytes, especially in patients with acquired immunodeficiency syndrome (AIDS). Movement disorders associated with PML are very rare. Here, we report a case of PML in an AIDS patient who presented with a cerebellar tremor, caused by lesions in the cerebellar outflow tract. A cerebellar tremor can be a rare clinical manifestation in patients with PML.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=61A Case of Adrenoleukodystrophy Presenting as Progressive Cerebellar Dysfunctionhttp://e-jmd.org/journal/view.php?number=58
<p>X-linked adrenoleukodystrophy (X-ALD) is a hereditary neurological disorder affecting the nervous system and adrenal cortex. The phenotype of X-ALD ranges from the rapidly progressive cerebral form to milder adrenomyeloneuropathy. However, cerebellar manifestations are rare. We report a case of adrenoleukodystrophy presenting as progressive cerebellar dysfunction resembling olivopontocerebellar degeneration, with a review of the literature</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=58A Case of Painful Hemimasticatory Spasm with Masseter Muscle Hypertrophy Responsive to ...http://e-jmd.org/journal/view.php?number=59
<p>Hemimasticatory spasm (HMS) is a rare disorder of the trigeminal nerve characterized by paroxysmal involuntary contractions of the unilateral jaw-closing muscles. HMS has been frequently described in association with facial hemiatrophy or localized scleroderma. A 42-year-old female presented with involuntary paroxysmal spasms of the left face, of 6 months duration. Her lower face on the left was markedly hypertrophied without skin lesions. An electrophysiological study indicated that the masseter reflexes and masseteric silent period were attenuated on the affected side. Surface electromyography demonstrated irregular bursts of motor unit potentials at high frequencies up to 200 Hz. Magnetic resonance imaging of the head showed marked hypertrophy of the left masseter muscle. Biopsy of the hypertrophied masseter muscle was normal. Repeated local injections of botulinum toxin noticeably reduced the size of the hypertrophied muscle as well as improved the patient’s symptoms.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=59Chorea in the Both Lower Limbs Associated with Nonketotic Hyperglycemiahttp://e-jmd.org/journal/view.php?number=62
<p>Hemichorea-hemiballism (HC-HB) is a complication of non-ketotic hyperglycemia (NKH); in NKH patients, the frequency of occurrence of HC-HB is greater than that of bilateral chorea. We report the case of a hyperglycemic patient who showed chorea in both the lower limbs. Magnetic resonance imaging (MRI) of the brain revealed high signal intensity on T1-weighted images of the bilateral dorsolateral putamen. The abnormal involuntary movements disappeared after oral administration of haloperidol. Our case report that chorea associated with NKH is correlated with the topography of the basal ganglia.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=62Microglial Imaging in Movement Disorders With PK11195 PEThttp://e-jmd.org/journal/view.php?number=104
<p>Activated microglia play a major role in the pathogenesis in neurological disorders. The transition of microglia from the normal resting state to the activated state is associated with an increased expression of receptors known as peripheral benzodiazepine binding sites, which are abundant on cells of mononuclear phagocyte lineage. PK11195 is a ligand which binds selectively to peripheral benzodiazepine binding sites, a type of receptor selectively expressed by activated microglia in the central nervous system. The <sup>11</sup>C-(R)-PK11195 positron emission tomography (PET) is already applied to many kinds of neurological disorders, including neurodegenerative disorders, and can demonstrate the role of neuroinflammation in the pathogenesis of neurological disorders. And this imaging modality also provides a means to monitor potential clinical relevance of antiinflammatory treatment strategies <italic>in vivo</italic>. This article reviews some of the clinical applications of <sup>11</sup>C-(R)-PK11195 PET in the field of movement disorders.</p>Review ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=104Transcranial Sonography in Parkinsonhttp://e-jmd.org/journal/view.php?number=101
Transcranial sonography (TCS) is potentially useful for the diagnosis of Parkinson’s disease (PD). It is attractive because it is non-invasive, easily accessible and low risk test. So far, up to twenties of TCS studies in Parkinson’s disease and parkinsonism have been reported. However, studies on TCS have been restricted to European populations and no such study has been performed in Asian especially Korean population. To investigate the efficacy of TCS in Korean PD patients and its correlation with the clinical features, we carried out midbrain TCS in PD patients and normal controls, and evaluated the area of the substantia nigra (SN) hyperechogenicity and its ratio to the area of the whole m idbrain. According to our study, we could conclude that midbrain TCS is an effective diagnostic tool for detecting PD in the Korean population. In this review, we additionally summarized clinical application of TCS in differential diagnosis of atypical parkinsonism as well as restless leg syndrome and depression. Journal of Movement Disorders 1(1):6-12, 2008Review ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=101Falls and Physical Injuries in Patients With Parkinsonhttp://e-jmd.org/journal/view.php?number=105
<sec>
<title>Background:</title>
<p>In Parkinson’s disease (PD), falls and subsequent physical injuries are frequent causes of morbidity and mortality. We investigated the characteristics of falls and physical injuries in Korean patients with PD.</p></sec>
<sec>
<title>Methods:</title>
<p>This study included 239 patients with PD. Using the medical records and interviews, we studied the characteristics of fall and its consequences retrospectively.</p></sec>
<sec>
<title>Results:</title>
<p>Among the 239 patients with PD, 129 (54.0%) patients had a history of fall. The mean interval between the disease onset and the first fall was 15.3 months. Among them, 83 patients (64.3%) fell more than twice. Eighty-six patients (66.7%) had physical injuries and 21 patients (15.3%) had fractures including 7 with hip fracture and 7 with arm fracture. Patients with physical injuries fell earlier and repetitively. They tended to fall during the night, toward lateral or posterior direction, and were unable to make protective hand movements.</p></sec>
<sec>
<title>Conclusions:</title>
<p>Elderly PD patients with long duration have a high risk of fall. To prevent the physical injuries, the clinicians should try to reduce the off time and advice the patients and caregivers to limit physical activities during the night.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=105Mild Cognitive Impairment in Parkinsonhttp://e-jmd.org/journal/view.php?number=102
<sec>
<title>Background</title>
<p>To determine the frequency of mild cognitive impairment (MCI) of Parkinson’s disease (PD, PDMCI) and its subtypes among non-demented PD patients, and to identify the influence of the age and presenting symptom on the development of PDMCI.</p></sec>
<sec>
<title>Methods:</title>
<p>A total 141 non-demented PD patients underwent a comprehensive neuropsychological assessment including attention, language, visuospatial, memory and frontal functions. PDMCI was defined by neuropsychological testing and was classified into five subtypes. Patients were divided into two groups (tremor vs. akinetic-rigid type) for presenting symptom and three groups according to the age. Neuropsychological performance of patients was compared with normative data.</p></sec>
<sec>
<title>Results:</title>
<p>Almost half (49.6%) of non-demented PD patients had impairment in at least one domain and can be considered as having PDMCI. Executive type of PDMCI was the most frequent and amnestic, visuospatial, linguistic and attention types followed in the order of frequency. The population of PDMCI was increasing as the age of disease onset was higher. Whereas the frequency of executive and amnestic types of PDMCI was comparable in younger group, executive type was the most frequent in older group. The patients with tremor dominant type performed worse on tests, particularly on attention test.</p></sec>
<sec>
<title>Conclusions:</title>
<p>MCI was common even in the early stage of PD and the subtype was diverse. Unlike MCI developing Alzheimer’s disease later, executive type of PDMCI was the most common. Age was an important risk factor for development of MCI in PD. The concept of MCI should be introduced in PD.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=102Relationship Between the Striatal and Cerebellar Glucose Metabolism and the Response to ...http://e-jmd.org/journal/view.php?number=99
<sec>
<title>Introduction:</title>
<p>About two thirds of the patients with multiple system atrophy (MSA) do not respond to levodopa treatment. Postmortem pathological studies and one retrospective [<sup>18</sup>F]-deoxyglucose positron emission tomography (FDGPET) study attributed such poor response to the striatal degeneration. We prospectively investigated the relationship between levodopa responsiveness and the metabolic activities of the striatum and cerebellum in MSA patients.</p></sec>
<sec>
<title>Methods:</title>
<p>In 39 patients with MSA, the UPDRS motor score was assessed and two sets of timed motor tests were perform ed before and after the levodopa treatment. After quantitative FDG PET and baseline evaluation, treatment w as started with 3 tablets of Sinemet<sup>?</sup> 25/250 mg a day. Clinical assessments were performed monthly for three months. Metabolic activities of the caudate, anterior putamen, posterior putamen, cerebellar cortex and cerebellar vermis were measured. We compared the measurements with mean percentage changes of motor function. Also, using statistical parametric mapping (SPM) analysis, we tried to find brain areas in which metabolism correlated with the clinical changes.</p></sec>
<sec>
<title>Results:</title>
<p>Mean percentage improvements of UPDRS motor scores w ere correlated with glucose metabolism in the posterior putamen and cerebellar vermis. The mean percentage improvements of performance in Purdue peg board test correlated with the glucose metabolism in the cerebellar cortex and vermis. In SPM analysis, cerebellar glucose metabolism correlated with the improvement of UPDRS motor score and the performance of two timed motor tests.</p></sec>
<sec>
<title>Conclusion:</title>
<p>The integrity of cerebellum, as well as posterior putamen, may be an important factor for showing the response to levodopa.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=99The Role of Telephone Counseling in Management of Parkinsonhttp://e-jmd.org/journal/view.php?number=98
<sec>
<title>Background:</title>
<p>Various nonpharmacologic managements are important fundamental elements in the treatment of Parkinson’s disease (PD). We aimed to investigate the role of telephone counseling in managing PD patients.</p></sec>
<sec>
<title>Methods:</title>
<p>From November 2006 to January 2007, we studied 243 PD patients at outpatient clinic of Asan Medical Center. Detailed telephone counseling was provided using a list structured questionnaires.</p></sec>
<sec>
<title>Results:</title>
<p>There were 73 men and 170 women with an age range of 17 to 85 years (mean age, 64.9 years). Mean age at onset was 59.5 years (range, 14?82 years) and mean disease duration was 5.6 years (range, 0.3?25 years). The contents of telephone counseling included adverse effects of anti-Parkinsonian medications (24.4%), aggravation of motor symptoms (18.7%), problems due to comorbidities (17.8%), how to take medicine (13.6%), activities of daily living (diet, bowel, sleeping and safety) (12.6%), complementary or alternative medicines (3.9%) and knowledge about PD (3.0%). Persons who responded to use the telephone counseling included patients (37.9%), offspring (36.2%), spouses (17.7%) and other relatives (7.4%). Persons who received the telephone counseling were determined by level of education, sex, cohabitation and Hoehn-Yahr stage. Contents of telephone counseling varied significantly with Hoehn-Yahr stage and persons who used the telephone counseling.</p></sec>
<sec>
<title>Conclusions:</title>
<p>Our results suggest that support system with telephone counseling may provide beneficial therapeutic intervention in PD patients, especially for those with advanced PD. The most cost-effective method for telephone support needs to be studied.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=98The Characteristics of Cognitive Impairment in Parkinsonhttp://e-jmd.org/journal/view.php?number=103
<sec>
<title>Objective:</title>
<p>Parkinson’s disease (PD) is characterized by motor and non-motor symptoms including cognitive, autonomic, sleep, and sensory disturbances. Cognitive impairment may occur in up to 80% of PD patients, and dementia in approximately 30%. The purpose of this study is to evaluate the frequency of cognitive impairment and the characteristics of cognitive deficits and to know the possibility of early detection of cognitive deficits in outpatient clinics with the questionnaire for patients and caregivers.</p></sec>
<sec>
<title>Methods:</title>
<p>A total of 129 consecutive patients with idiopathic Parkinson’s disease were visited movement clinic from March 2006 to August 2006. Eighty-five patients performed cognitive test and questionnaires. All patients had motor symptoms with Hoehn and Yahr stage 0.5 to 3 (mean: 1.98±0.617), and evaluated with cognition by K-MMSE (Korean version of Mini-mental status examination), 7-MS (7-minutes screen test), and demographic features.</p></sec>
<sec>
<title>Results:</title>
<p>The frequency of cognitive impairment in PD patients was 44.7% (38/85), among them thirty (78.9%) patients complained memory disturbance. The characteristics of cognitive test were retrieval defect in memory, visuospatial dysfunction and categorical word fluency. With questionnaire, the complaint of memory decline and difficulties in activity of daily living (ADL) w ere important points of cognitive deficit in PD patients. However questionnaire did not showed significant correlation between complain of memory decline and cognitive deficit, only regular check with cognitive function test revealed the patient’s early cognitive impairment.</p></sec>
<sec>
<title>Conclusions:</title>
<p>The cognitive impairment was frequent in PD patients. The characteristics of cognitive testing w ere retrieval defect in memory function and frontal executive dysfunction.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=103Hemidystonia Associated With Focal Status Epilepticus as Incipient Manifestations in Probable ...http://e-jmd.org/journal/view.php?number=97
<p>We report a 70-year-old man who manifested with hemidystonia associated with focal status epilepticus. The subsequent clinical symptoms and signs including rapid progressive dementia, and generalized myoclonus and the presence of 14-3-3 protein in cerebrospinal fluid, typical magnetic resonance imaging and eletroencephalography findings provide the evidences for diagnosis of probable Creutzfeldt-Jakob disease (CJD). Movement disorders or epilepsy rarely occur in the early stage of CJD. Furthermore, co-occurrence of both disorders in the early stage has been hardly reported. To the best of the authors’ knowledge, this is the first report in Korea of CJD presenting as dystonia. Our case suggests that CJD can present with a variety of movement disorders.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=97Painful Spasms and Rigidity of the Lower Limb Following Transverse Myelitis Associated With Sj?grenhttp://e-jmd.org/journal/view.php?number=100
<p>Abnormal muscle tone, such as spasm s, rigidity, and stiffness, following acute transverse myelitis (ATM) was such a rare manifestation that hardly reported until now. We experienced a 50-year-old patient with ATM associated with Sj?gren’s syndrome. Furthermore, the patients complained painful spasms and rigidity of left lower limb which begun after episode of ATM.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=100Jaw Dystonia Induced by Speakinghttp://e-jmd.org/journal/view.php?number=96
<p>We describe a 43-year-old housewife who presented with dysarthria suddenly because her masseter muscles contracted bilaterally, when she was speaking. Brain MRI showed focal signal change on midbrain. Jaw dystonia induced by speaking is very rare and we chose an anticholinergic medication, rather than botulinumtoxin injection. Her condition was markedly improved after medication. We suspected that her symptoms were related with focal lesion, so she had secondary jaw dystonia induced by speaking.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=96Gait Analysis in Patients With Parkinsonhttp://e-jmd.org/journal/view.php?number=72
<sec>
<title>Background:</title>
<p>The purpose of our study was to investigate gait dynamics and kinematics in patients with Parkinson’s disease (PD) and to correlate these features with the predominant clinical features and with the presence of the freezing of gait (FOG). We measured the temporospatial and kinematic parameters of gait in 30 patients with PD (M:F=12:18, age=68.43±7.54) using a computerized video motion analysis system.</p></sec>
<sec>
<title>Methods:</title>
<p>We divided the subjects into subgroups: (1) tremor-dominant (TD) group and postural instability and gait disturbance (PIGD) group and (2) FOG group and non-FOG group. We compared the gait parameters between the subgroups.</p></sec>
<sec>
<title>Results:</title>
<p>The walking velocity and stride length were reduced significantly in the PIGD group compared to the TD group. The PIGD group showed a significantly reduced range of motion in the pelvic and lower extremity joints by kinematics. Stride time variability was significantly increased and the pelvic oblique range was significantly reduced in the freezing gait disorder group.</p></sec>
<sec>
<title>Conclusion:</title>
<p>Our findings suggest that there are differences in the perturbation of the basal ganglia-cortical circuits based on major clinical features. The reduction of the pelvic oblique range of motion may be a compensatory mechanism for postural instability and contributes to stride time variability in patients with FOG.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=72The Correlation of ON and OFF Status With Clinical Characteristics in Patients With Parkinsonhttp://e-jmd.org/journal/view.php?number=74
<sec>
<title>Background:</title>
<p>Status of the disease is the one of main concerns of clinicians, especially in the course of primary degenerative disorders. In Parkinson’s disease (PD), Unified Parkinson’s Disease Rating Scale (UPDRS) is an useful clinical score that can express severity of parkinsonian symptoms, but L-DOPA treatment and motor fluctuations can change the UPDRS scores. Even in the best ‘on’ state, there can be residual motor deficits, and it is very difficult to estimate the worst ‘off’ state due to long duration effect of L-DOPA.</p></sec>
<sec>
<title>Objective:</title>
<p>To find relevant examination scores of ‘on’ or ‘off’ state of PD patients which correlates with clinical and demographic variables those can represents the status of Parkinson’s disease.</p></sec>
<sec>
<title>Methods:</title>
<p>Sixty-four patients with PD (24 male, age 63.0±8.6 years, Hoehn and Yahr stage (HY) 2.8±0.5) were examined UPDRS at ‘on’ and practically defined ‘off’ (12 hours after last medication) state. We evaluated the association between the ‘on’ and ‘off’ scores of UPDRS and duration of disease and treatment, and equivalent L-DOPA dose of the patients. Patients were grouped according to the presence of motor fluctuation to find the differences in those associations.</p></sec>
<sec>
<title>Results:</title>
<p>There were significantly strong correlations between UPDRS ‘off’ scores and clinical variables such as duration of disease and treatment. In ‘on’ state, only complication part of UPDRS was correlated with duration of disease and treatment, but activity of daily living (ADL) and motor part of UPDRS were correlated well with age of the patients. Age at disease onset showed significant negative association with the difference between ‘off’ and ‘on’ state UPDRS scores. Thirty-one patients who had motor fluctuation (9 male, age 62.7±9.3 years, HY 3.0±0.6) showed significantly increased duration of the disease, duration of L-DOPA treatment and equivalent DOPA dose compared to those of 33 patients without motor fluctuation (15 male, age 63.3±8.1 years, HY 2.6±0.3). In patients without motor fluctuation, both ‘off’ and ‘on’ UPDRS showed association with duration of disease and treatment, but ‘off’ and ‘off’ ? ‘on’ difference of UPDRS were better correlated with duration of disease and treatment in patients with motor fluctuation.</p></sec>
<sec>
<title>Conclusion:</title>
<p>We found that the UPDRS scores of practically defined ‘off’ state significantly correlated with the duration of the disease and treatment. Patients with motor fluctuation revealed better responsiveness to medication than those without motor fluctuation. In patients without motor fluctuation, UPDRS scores of ‘on’ state can reflect the clinical presentation as much as those of ‘off’ state.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=74The Relationship Between Plasma Homocysteine Level and C677T MTHFR Genotype in Drug-Naive ...http://e-jmd.org/journal/view.php?number=79
<sec>
<title>Backgrounds:</title>
<p>The cause of idiopathic Parkinson’s disease (IPD) is unknown, but reduced activity of complex I of the electron-transport chain has been implicated in the pathogenesis of IPD. Hyperhomocysteinemia is a well-established risk factor for cardiovascular and cerebrovascular diseases. However, recent evidence suggests that changes in the metabolic fate of homocysteine, leading to hyperhomocysteinemia, may also play a role in the pathophysiology of IPD.</p></sec>
<sec>
<title>Methods:</title>
<p>Age and sex-matched 41 drug-naive IPD patients (16 men and 25 women) and 161 healthy controls (66 men and 95 women) were included in this study. Their fasting plasma homocystein and folate level, and the genotypes of methylenetetrahydrofolate reductase (MTHFR) were analyzed.</p></sec>
<sec>
<title>Results:</title>
<p>The plasma level of homocysteine was higher in untreated IPD patients (12.0±2.9 μmol/L) compared to the controls (9.0±2.6 μmol/L) (<italic>p</italic> =0.001). The frequencies of MTHFR C677T genotypes were not different between patients (CC:CT:TT=7:23:11) and controls (CC:CT:TT=27:86:48) (<italic>p</italic> =0.930). The adjusted odds ratio of homocysteine was remarkable (adjusted OR=1.149, 95% confidential interval=1.66?2.28, <italic>p</italic> =0.004).</p></sec>
<sec>
<title>Conclusions:</title>
<p>IPD patients have higher plasma homocysteine level than healthy controls but MTHFR C667T genotype was not related to the homocysteine level. It can be suggested that increased plasma homocysteine level may contribute to the pathogenesis of IPD.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=79Reliability of Serum Anti-thyroid Antibody Screening in the Diagnosis of Parkinsonhttp://e-jmd.org/journal/view.php?number=75
<sec>
<title>Backgrounds:</title>
<p>Ataxia associated with Hashimoto’s thyroiditis autoantibodies has been reported as acquired cerebellar ataxia. However, relationship between anti-thyroid antibodies and cerebellar ataxia has not been clarified yet.</p></sec>
<sec>
<title>Objectives:</title>
<p>We aimed to analysis the relibility of serum anti-thyroid antibodies screening in the diagnosis of Parkinson’s disease (PD) and multiple system atrophy (MSA).</p></sec>
<sec>
<title>Method:</title>
<p>We enrolled 105 patients with clinically diagnosed PD and 75 patients with probable MSA. Patients with PD were classified into 70 patients with early PD (Hoehn & Yahr stage I to II) and 35 patients with late PD (Hoehn & Yahr stage III to IV). In MSA, 28 patients were classified as MSA-p (parkinsonism predominant) and 47 MSA-c (cerebellar predominant). For analysis of thyroid function, serum free triiodothyronine (T3), free thyroxine (T4), anti-thyroglobuline (TG) antibodies and anti-microsomal antibodies were measured. Cut-off level for abnormal titers of anti-thyroid antibodies were defiend as above 100 U/ml.</p></sec>
<sec>
<title>Results:</title>
<p>Abnormally high titer of serum anti-TG antibodies and anti-microsomal antibodies was more frequently observed in MSA than in PD (<italic>p</italic> =0.001 and 0.003, respectively). However, there was no significant difference in the frequency of abnormal titer either between MSA-c and MSA-p (<italic>p</italic>>0.05) nor between early PD and late PD (<italic>p</italic>>0.05). Among clinical parameters, only ataxia was correlated with both titer of anti-TG antibody and anti-microsomal antibody (<italic>p</italic>=0.007 and 0.002, respectively).</p></sec>
<sec>
<title>Conclusion:</title>
<p>These results suggest that high titer of anti-thyroid antibodies may be associated with MSA rather than PD and screening of serum anti-thyroid antibodies may be helpful for discrimiation of PD from MSA. However, anti-thyroid antibodies screening may not be helpful to differentiate MSA-c from MSA-p.</p></sec>Original ArticleThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=75Chorea as an Initial Manifestation of Polycythemia Verahttp://e-jmd.org/journal/view.php?number=73
<p>Chorea is a rare complication of polycythemia vera (PV). We report a 58-year-old woman with acute onset chorea without structural lesion in the basal ganglia. The physical and laboratory findings were compatible with the diagnosis of PV. After repeated phlebotomies her chorea was improved. PV should be considered as one of the possible etiologies of chorea, as early diagnosis is important to lead to the effective treatment and prevention of complications.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=73A Case of Chorea as the Initial Manifestation of SLE Triggered by Estrogenhttp://e-jmd.org/journal/view.php?number=70
<p>Neurological complications of systemic lupus erythematosus (SLE) are relatively common, but chorea as the initial manifestation of SLE unmasked by exogenous estrogen is very rare. A-46-year old right handed woman presented with generalized chorea since 2 weeks ago. Her medical records revealed that the chorea had appeared within one month after estrogen medication. The laboratory test revealed positive antinuclear antibody (ANA), positive anti-dsDNA and positive anti-histone antibody. After discontinuation of estrogen, her choreic movement was not diminished. We report a case of newly diagnosed SLE attribute to chorea which triggered by estrogen.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=70A Case of Genetically Confirmed Spinocerebellar Ataxia Type 8http://e-jmd.org/journal/view.php?number=80
<p>Spinocerebellar ataxia type 8 patients typically have a slowly progressive, adult-onset ataxia. SCA8 is characterized by relatively pure cerebellar ataxia, which is caused by the expansion of combined CTA/CTG repeats on chromosome 13q21. We report a 58 years old woman with slowly progressive dysarthria, and gait ataxia. We performed genetic studies for SCA 1, 2, 3, 6, 7, 8, 17 and detected CTA/CTG repeat expansion in the SCA8 gene.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=80A Case of Familial Cortical Myoclonic Tremor With Epilepsyhttp://e-jmd.org/journal/view.php?number=71
<p>Familial cortical myoclonic tremor with epilepsy (FCMTE) is a rare disorder characterized by irregular postural tremor of the limbs, family history of seizures, autosomal dominant inheritance, and a rather benign course. A 23 year-old man who had a history of seizure attack since age 16 showed postural and kinetic tremor and mental retardation (MR). His older sister as well as his mother had similar clinical feature. We report the first case of FCMTE in Korea.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=71Compulsive Shopping in Parkinsonhttp://e-jmd.org/journal/view.php?number=76
<p>Patients with Parkinson’s disease (PD) are at risk of a number of compulsive behaviors associated with dopaminergic drugs. We report one case of unusual compulsive shopping in idiopathic Parkinson disease (IPD) in relation to dopaminergic therapy. The mechanism explaining the behavior in this case is likely related to increased dopaminergic stimulation of non-motor basal ganglia loops. It suggests that perhaps many dopaminergic medications can be associated with compulsive behaviors.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=76Dopaminergic Medication-Related Repetitive Behaviors in Parkinsonhttp://e-jmd.org/journal/view.php?number=81
<p>A set of impulse control and repetitive behaviors presumed to be related to dopaminergic medications has been recognized in Parkinson’s disease (PD). A 68-year-old man presented with compulsive gathering of new towels for 8 months after increasing his medication dosage. After we reduced a dose of Sinemet<sup>?</sup> and ropinirole as before, and added amantadine, his repetitive behavior was gone and dyskinesia was improved.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=81Involuntary Scapular Movements as a Possible Manifestation of Radicular Myoclonushttp://e-jmd.org/journal/view.php?number=77
<p>Radicular myoclonus (RM) is a kind of peripheral myoclonus exclusively related with traumatic spinal root lesion. Here we describe a case with involuntary scapular movements as a possible manifestation of RM. A 37-year-old woman without any underlying disease developedinvoluntary movements of left shoulder two days after cervical trauma. On needle electromyographic recordings, the myoclonic jerky movements were found in left serratus anterior and rhomboid major muscles, and the duration of bursts ranged from 100 to 300 ms with the irregular frequency of 1?2 Hz. Electromyography studies showed accompanying left C5 radiculopathy. Treatment with clonazepm markedly improved involuntary scapular movements.</p>Case ReportThu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=77Cruciform Pontine MRI Hyperintensities (http://e-jmd.org/journal/view.php?number=78
Thu, 01 Jan 1970 09:00:00 +0100http://e-jmd.org/journal/view.php?number=78